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School of the Biological Sciences

 

 

Al Kindi Professor of Genetics, Department of Genetics 

Richard Durbin's research interests include genetic variation, evolutionary and population genetics in humans and cichlid fishes, and algorithms and software for high-throughput sequencing and genome assembly. Learn more. 

 

Research Areas


Genome sequences
Evolution
Cichlids
Ancient DNA
 
 

Techniques


Whole genome sequencing
High-throughput sequencing
Bioinformatics
Computational and population genetics 
 
 
   

 

Research Theme


   

Publications

Journal articles

2022

  • Wang, Y., Pedersen, MW., Alsos, IG., De Sanctis, B., Racimo, F., Prohaska, A., Coissac, E., Owens, HL., Merkel, MKF., Fernandez-Guerra, A., Rouillard, A., Lammers, Y., Alberti, A., Denoeud, F., Money, D., Ruter, AH., McColl, H., Larsen, NK., Cherezova, AA., Edwards, ME., Fedorov, GB., Haile, J., Orlando, L., Vinner, L., Korneliussen, TS., Beilman, DW., Bjørk, AA., Cao, J., Dockter, C., Esdale, J., Gusarova, G., Kjeldsen, KK., Mangerud, J., Rasic, JT., Skadhauge, B., Svendsen, JI., Tikhonov, A., Wincker, P., Xing, Y., Zhang, Y., Froese, DG., Rahbek, C., Bravo, DN., Holden, PB., Edwards, NR., Durbin, R., Meltzer, DJ., Kjær, KH., Möller, P. and Willerslev, E., 2022. Author Correction: Late Quaternary dynamics of Arctic biota from ancient environmental genomics. Nature, v. 603
    Doi: 10.1038/s41586-022-04628-x
  • Carruthers, M., Edgley, D., Saxon, A., Gabagambi, N., Shechonge, A., Miska, E., Durbin, R., Bridle, J., Turner, G. and Genner, M., 2022. Ecological speciation promoted by divergent regulation of functional genes within African cichlid fishes
    Doi: 10.1101/2022.01.07.475335
  • Hawe, JS., Wilson, R., Schmid, KT., Zhou, L., Lakshmanan, LN., Lehne, BC., Kühnel, B., Scott, WR., Wielscher, M., Yew, YW., Baumbach, C., Lee, DP., Marouli, E., Bernard, M., Pfeiffer, L., Matías-García, PR., Autio, MI., Bourgeois, S., Herder, C., Karhunen, V., Meitinger, T., Prokisch, H., Rathmann, W., Roden, M., Sebert, S., Shin, J., Strauch, K., Zhang, W., Tan, WLW., Hauck, SM., Merl-Pham, J., Grallert, H., Barbosa, EGV., MuTHER Consortium, , Illig, T., Peters, A., Paus, T., Pausova, Z., Deloukas, P., Foo, RSY., Jarvelin, M-R., Kooner, JS., Loh, M., Heinig, M., Gieger, C., Waldenberger, M. and Chambers, JC., 2022. Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function. Nat Genet, v. 54
    Doi: http://doi.org/10.1038/s41588-021-00969-x
  • Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, AV., Mikheenko, A., Vollger, MR., Altemose, N., Uralsky, L., Gershman, A., Aganezov, S., Hoyt, SJ., Diekhans, M., Logsdon, GA., Alonge, M., Antonarakis, SE., Borchers, M., Bouffard, GG., Brooks, SY., Caldas, GV., Chen, N-C., Cheng, H., Chin, C-S., Chow, W., de Lima, LG., Dishuck, PC., Durbin, R., Dvorkina, T., Fiddes, IT., Formenti, G., Fulton, RS., Fungtammasan, A., Garrison, E., Grady, PGS., Graves-Lindsay, TA., Hall, IM., Hansen, NF., Hartley, GA., Haukness, M., Howe, K., Hunkapiller, MW., Jain, C., Jain, M., Jarvis, ED., Kerpedjiev, P., Kirsche, M., Kolmogorov, M., Korlach, J., Kremitzki, M., Li, H., Maduro, VV., Marschall, T., McCartney, AM., McDaniel, J., Miller, DE., Mullikin, JC., Myers, EW., Olson, ND., Paten, B., Peluso, P., Pevzner, PA., Porubsky, D., Potapova, T., Rogaev, EI., Rosenfeld, JA., Salzberg, SL., Schneider, VA., Sedlazeck, FJ., Shafin, K., Shew, CJ., Shumate, A., Sims, Y., Smit, AFA., Soto, DC., Sović, I., Storer, JM., Streets, A., Sullivan, BA., Thibaud-Nissen, F., Torrance, J., Wagner, J., Walenz, BP., Wenger, A., Wood, JMD., Xiao, C., Yan, SM., Young, AC., Zarate, S., Surti, U., McCoy, RC., Dennis, MY., Alexandrov, IA., Gerton, JL., O'Neill, RJ., Timp, W., Zook, JM., Schatz, MC., Eichler, EE., Miga, KH. and Phillippy, AM., 2022. The complete sequence of a human genome. Science, v. 376
    Doi: http://doi.org/10.1126/science.abj6987
  • De Sanctis, B., Money, D., Pedersen, MW. and Durbin, R., 2022. A theoretical analysis of taxonomic binning accuracy. Mol Ecol Resour, v. 22
    Doi: 10.1111/1755-0998.13608
  • Wang, Y., Pedersen, MW., Alsos, IG., De Sanctis, B., Racimo, F., Prohaska, A., Coissac, E., Owens, HL., Merkel, MKF., Fernandez-Guerra, A., Rouillard, A., Lammers, Y., Alberti, A., Denoeud, F., Money, D., Ruter, AH., McColl, H., Larsen, NK., Cherezova, AA., Edwards, ME., Fedorov, GB., Haile, J., Orlando, L., Vinner, L., Korneliussen, TS., Beilman, DW., Bjørk, AA., Cao, J., Dockter, C., Esdale, J., Gusarova, G., Kjeldsen, KK., Mangerud, J., Rasic, JT., Skadhauge, B., Svendsen, JI., Tikhonov, A., Wincker, P., Xing, Y., Zhang, Y., Froese, DG., Rahbek, C., Bravo, DN., Holden, PB., Edwards, NR., Durbin, R., Meltzer, DJ., Kjær, KH., Möller, P. and Willerslev, E., 2022. Author Correction: Late Quaternary dynamics of Arctic biota from ancient environmental genomics. Nature, v. 610
    Doi: 10.1038/s41586-022-05359-9
  • Lawniczak, M., Durbin, R., Flicek, P., Lindlad-Toh, K., Wei, X., Archibald, J., Baker, W., Belov, K., Blaxter, M., Marques Bonet, T., Childers, A., Coddington, J., Crandall, K., Crarwford, A., Davey, R., Di Palma, F., Fang, Q., Haerty, W., Hall, N., Hoff, K., Howe, K., Jarvis, E., Johnson, W., Johnson, R., Kersey, P., Liu, X., Lopez, JV., Myers, E., Pettersson, O., Phillippy, A., Poelchau, M., Pruitt, K., Rhie, A., Castilla Rubio, JC., Kumar Sahu, S., Salmon, N., Solitis, P., Swarbreck, D., Thibaud-Nissen, F., Wang, S., Wegrzyn, J., Zhang, G., Zhang, H., Lewin, H. and Richards, S., 2022. Standards Recommendations for the Earth BioGenome Project Proceedings of the National Academy of Sciences of USA, v. 119
    Doi: 10.1073/pnas.2115639118
  • Lewin, HA., Richards, S., Lieberman Aiden, E., Allende, ML., Archibald, JM., Bálint, M., Barker, KB., Baumgartner, B., Belov, K., Bertorelle, G., Blaxter, ML., Cai, J., Caperello, ND., Carlson, K., Castilla-Rubio, JC., Chaw, S-M., Chen, L., Childers, AK., Coddington, JA., Conde, DA., Corominas, M., Crandall, KA., Crawford, AJ., DiPalma, F., Durbin, R., Ebenezer, TE., Edwards, SV., Fedrigo, O., Flicek, P., Formenti, G., Gibbs, RA., Gilbert, MTP., Goldstein, MM., Graves, JM., Greely, HT., Grigoriev, IV., Hackett, KJ., Hall, N., Haussler, D., Helgen, KM., Hogg, CJ., Isobe, S., Jakobsen, KS., Janke, A., Jarvis, ED., Johnson, WE., Jones, SJM., Karlsson, EK., Kersey, PJ., Kim, J-H., Kress, WJ., Kuraku, S., Lawniczak, MKN., Leebens-Mack, JH., Li, X., Lindblad-Toh, K., Liu, X., Lopez, JV., Marques-Bonet, T., Mazard, S., Mazet, JAK., Mazzoni, CJ., Myers, EW., O'Neill, RJ., Paez, S., Park, H., Robinson, GE., Roquet, C., Ryder, OA., Sabir, JSM., Shaffer, HB., Shank, TM., Sherkow, JS., Soltis, PS., Tang, B., Tedersoo, L., Uliano-Silva, M., Wang, K., Wei, X., Wetzer, R., Wilson, JL., Xu, X., Yang, H., Yoder, AD. and Zhang, G., 2022. The Earth BioGenome Project 2020: Starting the clock. Proc Natl Acad Sci U S A, v. 119
    Doi: http://doi.org/10.1073/pnas.2115635118
  • Blaxter, M., Archibald, JM., Childers, AK., Coddington, JA., Crandall, KA., Di Palma, F., Durbin, R., Edwards, SV., Graves, JAM., Hackett, KJ., Hall, N., Jarvis, ED., Johnson, RN., Karlsson, EK., Kress, WJ., Kuraku, S., Lawniczak, MKN., Lindblad-Toh, K., Lopez, JV., Moran, NA., Robinson, GE., Ryder, OA., Shapiro, B., Soltis, PS., Warnow, T., Zhang, G. and Lewin, HA., 2022. Why sequence all eukaryotes? Proc Natl Acad Sci U S A, v. 119
    Doi: http://doi.org/10.1073/pnas.2115636118
  • Sherkow, JS., Barker, KB., Braverman, I., Cook-Deegan, R., Durbin, R., Easter, CL., Goldstein, MM., Hudson, M., Kress, WJ., Lewin, HA., Mathews, DJH., McCarthy, C., McCartney, AM., da Silva, M., Torrance, AW. and Greely, HT., 2022. Ethical, legal, and social issues in the Earth BioGenome Project. Proc Natl Acad Sci U S A, v. 119
    Doi: http://doi.org/10.1073/pnas.2115859119
  • Martiniano, R., De Sanctis, B., Hallast, P. and Durbin, R., 2022. Placing ancient DNA sequences into reference phylogenies. Molecular Biology and Evolution,
    Doi: http://doi.org/10.1093/molbev/msac017
  • 2021

  • Durbin, R., 2021. Towards complete and error-free genome assemblies of all vertebrate species Nature,
    Doi: http://doi.org/10.1038/s41586-021-03451-0
  • Generalovic, T., McCarthy, S., Warren, I., Wood, J., Torrance, J., Sims, Y., Quail, M., Howe, K., Pipan, M., Durbin, R. and Jiggins, C., 2021. A high-quality, chromosome-level genome assembly of the Black Soldier Fly (Hermetia illucens L.) G3: Genes, Genomes, Genetics,
  • Pedersen, MW., De Sanctis, B., Saremi, NF., Sikora, M., Puckett, EE., Gu, Z., Moon, KL., Kapp, JD., Vinner, L., Vardanyan, Z., Ardelean, CF., Arroyo-Cabrales, J., Cahill, JA., Heintzman, PD., Zazula, G., MacPhee, RDE., Shapiro, B., Durbin, R. and Willerslev, E., 2021. Environmental genomics of Late Pleistocene black bears and giant short-faced bears. Curr Biol, v. 31
    Doi: 10.1016/j.cub.2021.04.027
  • Hansen, T., Fjelldal, PG., Lien, S., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Doulcan, J., Fedrigo, O., Mountcastle, J., Jarvis, E., McCarthy, SA., Chow, W., Howe, K., Torrance, J., Wood, J., Sims, Y., Haggerty, L., Challis, R., Threlfall, J., Mead, D., Durbin, R. and Blaxter, M., 2021. The genome sequence of the brown trout, Salmo trutta Linnaeus 1758. Wellcome Open Res, v. 6
    Doi: http://doi.org/10.12688/wellcomeopenres.16838.1
  • Mead, D., Ogden, R., Meredith, A., Peniche, G., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Doulcan, J., Holmes, N., Wright, V., Loose, M., Quail, MA., McCarthy, SA., Howe, K., Chow, W., Torrance, J., Collins, J., Challis, R., Durbin, R. and Blaxter, M., 2021. The genome sequence of the European golden eagle, Aquila chrysaetos chrysaetos Linnaeus 1758. Wellcome Open Res, v. 6
    Doi: http://doi.org/10.12688/wellcomeopenres.16631.1
  • Formenti, G., Rhie, A., Balacco, J., Haase, B., Mountcastle, J., Fedrigo, O., Brown, S., Capodiferro, MR., Al-Ajli, FO., Ambrosini, R., Houde, P., Koren, S., Oliver, K., Smith, M., Skelton, J., Betteridge, E., Dolucan, J., Corton, C., Bista, I., Torrance, J., Tracey, A., Wood, J., Uliano-Silva, M., Howe, K., McCarthy, S., Winkler, S., Kwak, W., Korlach, J., Fungtammasan, A., Fordham, D., Costa, V., Mayes, S., Chiara, M., Horner, DS., Myers, E., Durbin, R., Achilli, A., Braun, EL., Phillippy, AM., Jarvis, ED. and Vertebrate Genomes Project Consortium, , 2021. Complete vertebrate mitogenomes reveal widespread repeats and gene duplications. Genome Biol, v. 22
    Doi: http://doi.org/10.1186/s13059-021-02336-9
  • Vernaz, G., Hudson, A., Emília Santos, M., Fischer, B., Carruthers, M., Shechonge, A., Gabagambi, N., Tyers, A., Ngatunga, B., Malinsky, M., Durbin, R., Turner, G., Genner, M. and Miska, E., 2021. Epigenetic Divergence during Early Stages of Speciation in an African Crater Lake Cichlid Fish
    Doi: 10.1101/2021.07.30.435319
  • Hansen, T., Fjelldal, PG., Lien, S., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Doulcan, J., Fedrigo, O., Mountcastle, J., Jarvis, E., McCarthy, SA., Chow, W., Howe, K., Torrance, J., Wood, J., Sims, Y., Haggerty, L., Challis, R., Threlfall, J., Mead, D., Durbin, R. and Blaxter, M., 2021. The genome sequence of the brown trout, <i>Salmo trutta</i> Linnaeus 1758. Wellcome open research, v. 6
    Doi: http://doi.org/10.12688/wellcomeopenres.16838.1
  • Mead, D., Ogden, R., Meredith, A., Peniche, G., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Doulcan, J., Holmes, N., Wright, V., Loose, M., Quail, MA., McCarthy, SA., Howe, K., Chow, W., Torrance, J., Collins, J., Challis, R., Durbin, R. and Blaxter, M., 2021. The genome sequence of the European golden eagle, <i>Aquila chrysaetos chrysaetos</i> Linnaeus 1758. Wellcome open research, v. 6
    Doi: 10.12688/wellcomeopenres.16631.1
  • Wang, Y., Pedersen, MW., Alsos, IG., De Sanctis, B., Racimo, F., Prohaska, A., Coissac, E., Owens, HL., Merkel, MKF., Fernandez-Guerra, A., Rouillard, A., Lammers, Y., Alberti, A., Denoeud, F., Money, D., Ruter, AH., McColl, H., Larsen, NK., Cherezova, AA., Edwards, ME., Fedorov, GB., Haile, J., Orlando, L., Vinner, L., Korneliussen, TS., Beilman, DW., Bjørk, AA., Cao, J., Dockter, C., Esdale, J., Gusarova, G., Kjeldsen, KK., Mangerud, J., Rasic, JT., Skadhauge, B., Svendsen, JI., Tikhonov, A., Wincker, P., Xing, Y., Zhang, Y., Froese, DG., Rahbek, C., Bravo, DN., Holden, PB., Edwards, NR., Durbin, R., Meltzer, DJ., Kjær, KH., Möller, P. and Willerslev, E., 2021. Late Quaternary dynamics of Arctic biota from ancient environmental genomics. Nature, v. 600
    Doi: 10.1038/s41586-021-04016-x
  • Yen, EC., McCarthy, SA., Galarza, JA., Generalovic, TN., Pelan, S., Nguyen, P., Meier, JI., Warren, IA., Mappes, J., Durbin, R. and Jiggins, CD., 2021. Correction to: A haplotype-resolved, de novo genome assembly for the wood tiger moth (Arctia plantaginis) through trio binning. Gigascience, v. 10
    Doi: 10.1093/gigascience/giab073
  • Guan, D., McCarthy, SA., Ning, Z., Wang, G., Wang, Y. and Durbin, R., 2021. Efficient iterative Hi-C scaffolder based on N-best neighbors. BMC Bioinformatics, v. 22
    Doi: http://doi.org/10.1186/s12859-021-04453-5
  • Guan, D., McCarthy, SA., Ning, Z., Wang, G., Wang, Y. and Durbin, R., 2021. Correction to: Efficient iterative Hi-C scaffolder based on N-best neighbors. BMC Bioinformatics, v. 22
    Doi: http://doi.org/10.1186/s12859-021-04537-2
  • 2020

  • Jiggins, C., Yen, E., McCarthy, S., Galarza, J., Generalovic, T., Pelan, S., Nguyen, P., Meier, J., warren, I., Mappes, J. and Durbin, R., 2020. A haplotype-resolved, de novo genome assembly for the wood tiger moth (Arctia plantaginis) through trio binning GigaScience,
  • Bista, I., McCarthy, SA., Wood, J., Ning, Z., Detrich Iii, HW., Desvignes, T., Postlethwait, J., Chow, W., Howe, K., Torrance, J., Smith, M., Oliver, K., Vertebrate Genomes Project Consortium, , Miska, EA. and Durbin, R., 2020. The genome sequence of the channel bull blenny, Cottoperca gobio (Günther, 1861). Wellcome Open Res, v. 5
    Doi: 10.12688/wellcomeopenres.16012.1
  • Martiniano, R., Garrison, E., Jones, ER., Manica, A. and Durbin, R., 2020. Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph. Genome Biol, v. 21
    Doi: 10.1186/s13059-020-02160-7
  • Mirauta, BA., Seaton, DD., Bensaddek, D., Brenes, A., Bonder, MJ., Kilpinen, H., HipSci Consortium, , Stegle, O. and Lamond, AI., 2020. Population-scale proteome variation in human induced pluripotent stem cells. Elife, v. 9
    Doi: http://doi.org/10.7554/eLife.57390
  • Mead, D., Fingland, K., Cripps, R., Portela Miguez, R., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Doulcan, J., Quail, MA., McCarthy, SA., Howe, K., Sims, Y., Torrance, J., Tracey, A., Challis, R., Durbin, R. and Blaxter, M., 2020. The genome sequence of the eastern grey squirrel, <i>Sciurus carolinensis</i> Gmelin, 1788. Wellcome open research, v. 5
    Doi: http://doi.org/10.12688/wellcomeopenres.15721.1
  • Kamm, J., Terhorst, J., Durbin, R. and Song, YS., 2020. Efficiently Inferring the Demographic History of Many Populations With Allele Count Data Journal of the American Statistical Association, v. 115
    Doi: 10.1080/01621459.2019.1635482
  • Formenti, G., Rhie, A., Balacco, J., Haase, B., Mountcastle, J., Fedrigo, O., Brown, S., Capodiferro, M., Al-Ajli, FO., Ambrosini, R., Houde, P., Koren, S., Oliver, K., Smith, M., Skelton, J., Betteridge, E., Dolucan, J., Corton, C., Bista, I., Torrance, J., Tracey, A., Wood, J., Uliano-Silva, M., Howe, K., McCarthy, S., Winkler, S., Kwak, W., Korlach, J., Fungtammasan, A., Fordham, D., Costa, V., Mayes, S., Chiara, M., Horner, DS., Myers, E., Durbin, R., Achilli, A., Braun, EL., Phillippy, AM. and Jarvis, ED., 2020. Complete vertebrate mitogenomes reveal widespread gene duplications and repeats
    Doi: 10.1101/2020.06.30.177956
  • Mead, D., Fingland, K., Cripps, R., Portela Miguez, R., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Dolucan, J., Dudchenko, O., Omer, AD., Weisz, D., Lieberman Aiden, E., Fedrigo, O., Mountcastle, J., Jarvis, E., McCarthy, SA., Sims, Y., Torrance, J., Tracey, A., Howe, K., Challis, R., Durbin, R. and Blaxter, M., 2020. The genome sequence of the Eurasian red squirrel, Sciurus vulgaris Linnaeus 1758. Wellcome Open Res, v. 5
    Doi: http://doi.org/10.12688/wellcomeopenres.15679.1
  • Mead, D., Fingland, K., Cripps, R., Portela Miguez, R., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Doulcan, J., Quail, MA., McCarthy, SA., Howe, K., Sims, Y., Torrance, J., Tracey, A., Challis, R., Durbin, R. and Blaxter, M., 2020. The genome sequence of the eastern grey squirrel, Sciurus carolinensis Gmelin, 1788. Wellcome Open Res, v. 5
    Doi: http://doi.org/10.12688/wellcomeopenres.15721.1
  • Cuomo, ASE., Seaton, DD., McCarthy, DJ., Martinez, I., Bonder, MJ., Garcia-Bernardo, J., Amatya, S., Madrigal, P., Isaacson, A., Buettner, F., Knights, A., Natarajan, KN., HipSci Consortium, , Vallier, L., Marioni, JC., Chhatriwala, M. and Stegle, O., 2020. Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. Nat Commun, v. 11
    Doi: http://doi.org/10.1038/s41467-020-14457-z
  • Cuomo, ASE., Seaton, DD., McCarthy, DJ., Martinez, I., Bonder, MJ., Garcia-Bernardo, J., Amatya, S., Madrigal, P., Isaacson, A., Buettner, F., Knights, A., Natarajan, KN., HipSci Consortium, , Vallier, L., Marioni, JC., Chhatriwala, M. and Stegle, O., 2020. Publisher Correction: Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. Nat Commun, v. 11
    Doi: http://doi.org/10.1038/s41467-020-15098-y
  • Svardal, H., Quah, FX., Malinsky, M., Ngatunga, BP., Miska, EA., Salzburger, W., Genner, MJ., Turner, GF. and Durbin, R., 2020. Ancestral Hybridization Facilitated Species Diversification in the Lake Malawi Cichlid Fish Adaptive Radiation. Molecular biology and evolution, v. 37
    Doi: 10.1093/molbev/msz294
  • McCarthy, DJ., Rostom, R., Huang, Y., Kunz, DJ., Danecek, P., Bonder, MJ., Hagai, T., Lyu, R., HipSci Consortium, , Wang, W., Gaffney, DJ., Simons, BD., Stegle, O. and Teichmann, SA., 2020. Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes. Nat Methods, v. 17
    Doi: 10.1038/s41592-020-0766-3
  • Mead, D., Hailer, F., Chadwick, E., Portela Miguez, R., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Doulcan, JD., Dudchenko, O., Omer, A., Weisz, D., Lieberman Aiden, E., McCarthy, S., Howe, K., Sims, Y., Torrance, J., Tracey, A., Challis, R., Durbin, R. and Blaxter, M., 2020. The genome sequence of the Eurasian river otter, Lutra lutra Linnaeus 1758. Wellcome Open Res, v. 5
    Doi: http://doi.org/10.12688/wellcomeopenres.15722.1
  • Rhie, A., McCarthy, S., Fedrigo, O., Damas, J., Formenti, G., Koren, S., Uliano-Silva, M., Chow, W., Fungtammasan, A., Gedman, G., Cantin, L., Thibaud-Nissen, F., Haggerty, L., Lee, C., Ko, BJ., Kim, J., Bista, I., Smith, M., Haase, B., Mountcastle, J., Winkler, S., Paez, S., Howard, J., Vernes, S., Lama, T., Grutzner, F., Warren, W., Balakrishnan, C., Burt, D., George, J., Biegler, M., Iorns, D., Digby, A., Eason, D., Edwards, T., Wilkinson, M., Turner, G., Meyer, A., Kautt, A., Franchini, P., Detrich, W., Svardal, H., Wagner, M., Naylor, GJP., Pippel, M., Malinsky, M., Mooney, M., Simbirsky, M., Hannigan, B., Pesout, T., Houck, M., Misuraca, A., Kingan, S., Hall, R., Kronenberg, Z., Korlach, J., Sović, I., Dunn, C., Ning, Z., Hastie, A., Lee, J., Selvaraj, S., Green, R., Putnam, N., Ghurye, J., Garrison, E., Sims, Y., Collins, J., Pelan, S., Torrance, J., Tracey, A., Wood, J., Guan, D., London, S., Clayton, D., Mello, C., Friedrich, S., Lovell, P., Osipova, E., Al-Ajli, F., Secomandi, S., Kim, H., Theofanopoulou, C., Zhou, Y., Harris, R., Makova, K., Medvedev, P., Hoffman, J., Masterson, P., Clark, K., Martin, F., Howe, K., Flicek, P., Walenz, B., Kwak, W., Clawson, H., Diekhans, M., Nassar, L., Paten, B., Kraus, RHS., Lewin, H., Crawford, A., Gilbert, T., Zhang, G., Venkatesh, B., Murphy, R., Koepfli, K-P., Shapiro, B., Johnson, W., Di Palma, F., Margues-Bonet, T., Teeling, E., Warnow, T., Graves, JM., Ryder, O., Hausler, D., O’Brien, S., Howe, K., Myers, E., Durbin, R., Phillippy, A. and Jarvis, E., 2020. Towards complete and error-free genome assemblies of all vertebrate species
    Doi: 10.1101/2020.05.22.110833
  • Mead, D., Hailer, F., Chadwick, E., Portela Miguez, R., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Doulcan, JD., Dudchenko, O., Omer, A., Weisz, D., Lieberman Aiden, E., McCarthy, S., Howe, K., Sims, Y., Torrance, J., Tracey, A., Challis, R., Durbin, R. and Blaxter, M., 2020. The genome sequence of the Eurasian river otter, Lutra lutra Linnaeus 1758
    Doi: 10.12688/wellcomeopenres.15722.1
  • Mead, D., Fingland, K., Cripps, R., Portela Miguez, R., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Dolucan, J., Dudchenko, O., Omer, AD., Weisz, D., Lieberman Aiden, E., Fedrigo, O., Mountcastle, J., Jarvis, E., McCarthy, SA., Sims, Y., Torrance, J., Tracey, A., Howe, K., Challis, R., Durbin, R. and Blaxter, M., 2020. The genome sequence of the Eurasian red squirrel, <i>Sciurus vulgaris</i> Linnaeus 1758. Wellcome open research, v. 5
    Doi: http://doi.org/10.12688/wellcomeopenres.15679.1
  • Svardal, H., Rusuwa, B., Linderoth, T., Kiran, A., Charmantier, A., Lattorff, HMG., Cagan, A., Ommeh, SC., Kamng'ona, A., Katongo, C., Santos, ME., Durbin, R., Kumwenda, B., Visscher, PM., von der Heyden, S. and Participants of SMBE Malawi, , 2020. Evolutionary Genomics at the Human-Environment Interface in Africa. Mol Biol Evol, v. 37
    Doi: http://doi.org/10.1093/molbev/msaa132
  • 2019

  • Bonfield, JK., McCarthy, SA. and Durbin, R., 2019. Crumble: reference free lossy compression of sequence quality values Bioinformatics, v. 35
    Doi: http://doi.org/10.1093/bioinformatics/bty608
  • Kingan, SB., Heaton, H., Cudini, J., Lambert, CC., Baybayan, P., Galvin, BD., Durbin, R., Korlach, J. and Lawniczak, MKN., 2019. A High-Quality De novo Genome Assembly from a Single Mosquito Using PacBio Sequencing. Genes (Basel), v. 10
    Doi: http://doi.org/10.3390/genes10010062
  • Sikora, M., Pitulko, VV., Sousa, VC., Allentoft, ME., Vinner, L., Rasmussen, S., Margaryan, A., de Barros Damgaard, P., de la Fuente, C., Renaud, G., Yang, MA., Fu, Q., Dupanloup, I., Giampoudakis, K., Nogués-Bravo, D., Rahbek, C., Kroonen, G., Peyrot, M., McColl, H., Vasilyev, SV., Veselovskaya, E., Gerasimova, M., Pavlova, EY., Chasnyk, VG., Nikolskiy, PA., Gromov, AV., Khartanovich, VI., Moiseyev, V., Grebenyuk, PS., Fedorchenko, AY., Lebedintsev, AI., Slobodin, SB., Malyarchuk, BA., Martiniano, R., Meldgaard, M., Arppe, L., Palo, JU., Sundell, T., Mannermaa, K., Putkonen, M., Alexandersen, V., Primeau, C., Baimukhanov, N., Malhi, RS., Sjögren, K-G., Kristiansen, K., Wessman, A., Sajantila, A., Lahr, MM., Durbin, R., Nielsen, R., Meltzer, DJ., Excoffier, L. and Willerslev, E., 2019. The population history of northeastern Siberia since the Pleistocene. Nature, v. 570
    Doi: 10.1038/s41586-019-1279-z
  • Heaton, H., Talman, A., Knights, A., Imaz, M., Gaffney, D., Gaffney, D., Durbin, R., Hemberg, M., Hemberg, M. and Lawniczak, M., 2019. souporcell: Robust clustering of single cell RNAseq by genotype and ambient RNA inference without reference genotypes
    Doi: 10.1101/699637
  • Garg, S., Aach, J., Li, H., Durbin, R. and Church, G., 2019. A haplotype-aware de novo assembly of related individuals using pedigree graph
    Doi: 10.1101/580159
  • Shchur, V., Ziganurova, L. and Durbin, R., 2019. Fast and scalable genome-wide inference of local tree topologies from large number of haplotypes based on tree consistent PBWT data structure
    Doi: 10.1101/542035
  • Vigilante, A., Laddach, A., Moens, N., Meleckyte, R., Leha, A., Ghahramani, A., Culley, OJ., Kathuria, A., Hurling, C., Vickers, A., Wiseman, E., Tewary, M., Zandstra, PW., HipSci Consortium, , Durbin, R., Fraternali, F., Stegle, O., Birney, E., Luscombe, NM., Danovi, D. and Watt, FM., 2019. Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors. Cell Rep, v. 26
    Doi: http://doi.org/10.1016/j.celrep.2019.01.094
  • 2018

  • Skov, L., Hui, R., Shchur, V., Hobolth, A., Scally, A., Schierup, MH. and Durbin, R., 2018. Detecting archaic introgression using an unadmixed outgroup. PLoS Genet, v. 14
    Doi: 10.1371/journal.pgen.1007641
  • Malinsky, M., Svardal, H., Tyers, AM., Miska, EA., Genner, MJ., Turner, GF. and Durbin, R., 2018. Whole-genome sequences of Malawi cichlids reveal multiple radiations interconnected by gene flow. Nat Ecol Evol, v. 2
    Doi: 10.1038/s41559-018-0717-x
  • Kingan, S., Heaton, H., Cudini, J., Lambert, C., Baybayan, P., Galvin, B., Durbin, R., Korlach, J. and Lawniczak, M., 2018. A High-Quality De <i>Novo</i> Genome Assembly from a Single Mosquito using PacBio Sequencing
    Doi: 10.1101/499954
  • Garrison, E., Sirén, J., Novak, AM., Hickey, G., Eizenga, JM., Dawson, ET., Jones, W., Garg, S., Markello, C., Lin, MF., Paten, B. and Durbin, R., 2018. Variation graph toolkit improves read mapping by representing genetic variation in the reference. Nat Biotechnol, v. 36
    Doi: http://doi.org/10.1038/nbt.4227
  • de Barros Damgaard, P., Martiniano, R., Kamm, J., Moreno-Mayar, JV., Kroonen, G., Peyrot, M., Barjamovic, G., Rasmussen, S., Zacho, C., Baimukhanov, N., Zaibert, V., Merz, V., Biddanda, A., Merz, I., Loman, V., Evdokimov, V., Usmanova, E., Hemphill, B., Seguin-Orlando, A., Yediay, FE., Ullah, I., Sjögren, K-G., Iversen, KH., Choin, J., de la Fuente, C., Ilardo, M., Schroeder, H., Moiseyev, V., Gromov, A., Polyakov, A., Omura, S., Senyurt, SY., Ahmad, H., McKenzie, C., Margaryan, A., Hameed, A., Samad, A., Gul, N., Khokhar, MH., Goriunova, OI., Bazaliiskii, VI., Novembre, J., Weber, AW., Orlando, L., Allentoft, ME., Nielsen, R., Kristiansen, K., Sikora, M., Outram, AK., Durbin, R. and Willerslev, E., 2018. The first horse herders and the impact of early Bronze Age steppe expansions into Asia. Science (New York, N.Y.), v. 360
    Doi: 10.1126/science.aar7711
  • Durbin, RM. and Lewin, HA., 2018. Earth BioGenome Project: Sequencing life for the future of life Proceedings of the National Academy of Sciences of the United States of America,
    Doi: http://doi.org/10.1073/pnas.1720115115
  • Scerri, EML., Thomas, MG., Manica, A., Gunz, P., Stock, JT., Stringer, C., Grove, M., Groucutt, HS., Timmermann, A., Rightmire, GP., d'Errico, F., Tryon, CA., Drake, NA., Brooks, AS., Dennell, RW., Durbin, R., Henn, BM., Lee-Thorp, J., deMenocal, P., Petraglia, MD., Thompson, JC., Scally, A. and Chikhi, L., 2018. Did Our Species Evolve in Subdivided Populations across Africa, and Why Does It Matter? Trends in Ecology & Evolution, v. 33
    Doi: 10.1016/j.tree.2018.05.005
  • 2017

  • Kilpinen, H., Goncalves, A., Leha, A., Afzal, V., Alasoo, K., Ashford, S., Bala, S., Bensaddek, D., Casale, FP., Culley, OJ., Danecek, P., Faulconbridge, A., Harrison, PW., Kathuria, A., McCarthy, D., McCarthy, SA., Meleckyte, R., Memari, Y., Moens, N., Soares, F., Mann, A., Streeter, I., Agu, CA., Alderton, A., Nelson, R., Harper, S., Patel, M., White, A., Patel, SR., Clarke, L., Halai, R., Kirton, CM., Kolb-Kokocinski, A., Beales, P., Birney, E., Danovi, D., Lamond, AI., Ouwehand, WH., Vallier, L., Watt, FM., Durbin, R., Stegle, O. and Gaffney, DJ., 2017. Corrigendum: Common genetic variation drives molecular heterogeneity in human iPSCs. Nature, v. 546
    Doi: http://doi.org/10.1038/nature23012
  • Schneider, VA., Graves-Lindsay, T., Howe, K., Bouk, N., Chen, H-C., Kitts, PA., Murphy, TD., Pruitt, KD., Thibaud-Nissen, F., Albracht, D., Fulton, RS., Kremitzki, M., Magrini, V., Markovic, C., McGrath, S., Steinberg, KM., Auger, K., Chow, W., Collins, J., Harden, G., Hubbard, T., Pelan, S., Simpson, JT., Threadgold, G., Torrance, J., Wood, JM., Clarke, L., Koren, S., Boitano, M., Peluso, P., Li, H., Chin, C-S., Phillippy, AM., Durbin, R., Wilson, RK., Flicek, P., Eichler, EE. and Church, DM., 2017. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res, v. 27
    Doi: http://doi.org/10.1101/gr.213611.116
  • Kilpinen, H., Goncalves, A., Leha, A., Afzal, V., Alasoo, K., Ashford, S., Bala, S., Bensaddek, D., Casale, FP., Culley, OJ., Danecek, P., Faulconbridge, A., Harrison, PW., Kathuria, A., McCarthy, D., McCarthy, SA., Meleckyte, R., Memari, Y., Moens, N., Soares, F., Mann, A., Streeter, I., Agu, CA., Alderton, A., Nelson, R., Harper, S., Patel, M., White, A., Patel, SR., Clarke, L., Halai, R., Kirton, CM., Kolb-Kokocinski, A., Beales, P., Birney, E., Danovi, D., Lamond, AI., Ouwehand, WH., Vallier, L., Watt, FM., Durbin, R., Stegle, O. and Gaffney, DJ., 2017. Common genetic variation drives molecular heterogeneity in human iPSCs. Nature, v. 546
    Doi: http://doi.org/10.1038/nature22403
  • Tachmazidou, I., Süveges, D., Min, JL., Ritchie, GRS., Steinberg, J., Walter, K., Iotchkova, V., Schwartzentruber, J., Huang, J., Memari, Y., McCarthy, S., Crawford, AA., Bombieri, C., Cocca, M., Farmaki, A-E., Gaunt, TR., Jousilahti, P., Kooijman, MN., Lehne, B., Malerba, G., Männistö, S., Matchan, A., Medina-Gomez, C., Metrustry, SJ., Nag, A., Ntalla, I., Paternoster, L., Rayner, NW., Sala, C., Scott, WR., Shihab, HA., Southam, L., St Pourcain, B., Traglia, M., Trajanoska, K., Zaza, G., Zhang, W., Artigas, MS., Bansal, N., Benn, M., Chen, Z., Danecek, P., Lin, W-Y., Locke, A., Luan, J., Manning, AK., Mulas, A., Sidore, C., Tybjaerg-Hansen, A., Varbo, A., Zoledziewska, M., Finan, C., Hatzikotoulas, K., Hendricks, AE., Kemp, JP., Moayyeri, A., Panoutsopoulou, K., Szpak, M., Wilson, SG., Boehnke, M., Cucca, F., Di Angelantonio, E., Langenberg, C., Lindgren, C., McCarthy, MI., Morris, AP., Nordestgaard, BG., Scott, RA., Tobin, MD., Wareham, NJ., SpiroMeta Consortium, , GoT2D Consortium, , Burton, P., Chambers, JC., Smith, GD., Dedoussis, G., Felix, JF., Franco, OH., Gambaro, G., Gasparini, P., Hammond, CJ., Hofman, A., Jaddoe, VWV., Kleber, M., Kooner, JS., Perola, M., Relton, C., Ring, SM., Rivadeneira, F., Salomaa, V., Spector, TD., Stegle, O., Toniolo, D., Uitterlinden, AG., arcOGEN Consortium, , Understanding Society Scientific Group, , UK10K Consortium, , Barroso, I., Greenwood, CMT., Perry, JRB., Walker, BR., Butterworth, AS., Xue, Y., Durbin, R., Small, KS., Soranzo, N., Timpson, NJ. and Zeggini, E., 2017. Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits American Journal of Human Genetics, v. 100
    Doi: http://doi.org/10.1016/j.ajhg.2017.04.014
  • Giordano, F., Aigrain, L., Quail, MA., Coupland, P., Bonfield, JK., Davies, RM., Tischler, G., Jackson, DK., Keane, TM., Li, J., Yue, J-X., Liti, G., Durbin, R. and Ning, Z., 2017. De novo yeast genome assemblies from MinION, PacBio and MiSeq platforms. Sci Rep, v. 7
    Doi: http://doi.org/10.1038/s41598-017-03996-z
  • Xue, Y., Mezzavilla, M., Haber, M., McCarthy, S., Chen, Y., Narasimhan, V., Gilly, A., Ayub, Q., Colonna, V., Southam, L., Finan, C., Massaia, A., Chheda, H., Palta, P., Ritchie, G., Asimit, J., Dedoussis, G., Gasparini, P., Palotie, A., Ripatti, S., Soranzo, N., Toniolo, D., Wilson, JF., Durbin, R., Tyler-Smith, C. and Zeggini, E., 2017. Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations. Nat Commun, v. 8
    Doi: http://doi.org/10.1038/ncomms15927
  • Yue, J-X., Li, J., Aigrain, L., Hallin, J., Persson, K., Oliver, K., Bergström, A., Coupland, P., Warringer, J., Lagomarsino, MC., Fischer, G., Durbin, R. and Liti, G., 2017. Contrasting evolutionary genome dynamics between domesticated and wild yeasts. Nat Genet, v. 49
    Doi: http://doi.org/10.1038/ng.3847
  • Chheda, H., Palta, P., Pirinen, M., McCarthy, S., Walter, K., Koskinen, S., Salomaa, V., Daly, M., Durbin, R., Palotie, A., Aittokallio, T. and Ripatti, S., 2017. Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom. Eur J Hum Genet, v. 25
    Doi: http://doi.org/10.1038/ejhg.2016.205
  • Dolle, DD., Liu, Z., Cotten, M., Simpson, JT., Iqbal, Z., Durbin, R., McCarthy, SA. and Keane, TM., 2017. Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes Genome Research, v. 27
    Doi: http://doi.org/10.1101/gr.211748.116
  • Sandor, C., Honti, F., Haerty, W., Szewczyk-Krolikowski, K., Tomlinson, P., Evetts, S., Millin, S., Keane, T., McCarthy, SA., Durbin, R., Talbot, K., Hu, M., Webber, C., Ponting, CP. and Wade-Martins, R., 2017. Whole-exome sequencing of 228 patients with sporadic Parkinson's disease. Sci Rep, v. 7
    Doi: http://doi.org/10.1038/srep41188
  • 2016

  • Malaspinas, A-S., Westaway, MC., Muller, C., Sousa, VC., Lao, O., Alves, I., Bergström, A., Athanasiadis, G., Cheng, JY., Crawford, JE., Heupink, TH., Macholdt, E., Peischl, S., Rasmussen, S., Schiffels, S., Subramanian, S., Wright, JL., Albrechtsen, A., Barbieri, C., Dupanloup, I., Eriksson, A., Margaryan, A., Moltke, I., Pugach, I., Korneliussen, TS., Levkivskyi, IP., Moreno-Mayar, JV., Ni, S., Racimo, F., Sikora, M., Xue, Y., Aghakhanian, FA., Brucato, N., Brunak, S., Campos, PF., Clark, W., Ellingvåg, S., Fourmile, G., Gerbault, P., Injie, D., Koki, G., Leavesley, M., Logan, B., Lynch, A., Matisoo-Smith, EA., McAllister, PJ., Mentzer, AJ., Metspalu, M., Migliano, AB., Murgha, L., Phipps, ME., Pomat, W., Reynolds, D., Ricaut, F-X., Siba, P., Thomas, MG., Wales, T., Wall, CM., Oppenheimer, SJ., Tyler-Smith, C., Durbin, R., Dortch, J., Manica, A., Schierup, MH., Foley, RA., Lahr, MM., Bowern, C., Wall, JD., Mailund, T., Stoneking, M., Nielsen, R., Sandhu, MS., Excoffier, L., Lambert, DM. and Willerslev, E., 2016. A genomic history of Aboriginal Australia. Nature, v. 538
    Doi: 10.1038/nature18299
  • Dougherty, GW., Loges, NT., Klinkenbusch, JA., Olbrich, H., Pennekamp, P., Menchen, T., Raidt, J., Wallmeier, J., Werner, C., Westermann, C., Ruckert, C., Mirra, V., Hjeij, R., Memari, Y., Durbin, R., Kolb-Kokocinski, A., Praveen, K., Kashef, MA., Kashef, S., Eghtedari, F., Häffner, K., Valmari, P., Baktai, G., Aviram, M., Bentur, L., Amirav, I., Davis, EE., Katsanis, N., Brueckner, M., Shaposhnykov, A., Pigino, G., Dworniczak, B. and Omran, H., 2016. DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. Am J Respir Cell Mol Biol, v. 55
    Doi: http://doi.org/10.1165/rcmb.2015-0353OC
  • Wallmeier, J., Shiratori, H., Dougherty, GW., Edelbusch, C., Hjeij, R., Loges, NT., Menchen, T., Olbrich, H., Pennekamp, P., Raidt, J., Werner, C., Minegishi, K., Shinohara, K., Asai, Y., Takaoka, K., Lee, C., Griese, M., Memari, Y., Durbin, R., Kolb-Kokocinski, A., Sauer, S., Wallingford, JB., Hamada, H. and Omran, H., 2016. TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. Am J Hum Genet, v. 99
    Doi: http://doi.org/10.1016/j.ajhg.2016.06.014
  • Loh, P-R., Danecek, P., Palamara, PF., Fuchsberger, C., A Reshef, Y., K Finucane, H., Schoenherr, S., Forer, L., McCarthy, S., Abecasis, GR., Durbin, R. and L Price, A., 2016. Reference-based phasing using the Haplotype Reference Consortium panel. Nature Genetics, v. 48
    Doi: http://doi.org/10.1038/ng.3679
  • Schiffels, S., Haak, W., Paajanen, P., Llamas, B., Popescu, E., Loe, L., Clarke, R., Lyons, A., Mortimer, R., Sayer, D., Tyler-Smith, C., Cooper, A. and Durbin, R., 2016. Iron Age and Anglo-Saxon genomes from East England reveal British migration history. Nat Commun, v. 7
    Doi: 10.1038/ncomms10408
  • Leha, A., Moens, N., Meleckyte, R., Culley, OJ., Gervasio, MK., Kerz, M., Reimer, A., Cain, SA., Streeter, I., Folarin, A., Stegle, O., Kielty, CM., HipSci Consortium, , Durbin, R., Watt, FM. and Danovi, D., 2016. A high-content platform to characterise human induced pluripotent stem cell lines. Methods, v. 96
    Doi: 10.1016/j.ymeth.2015.11.012
  • Jeroncic, A., Memari, Y., Ritchie, GR., Hendricks, AE., Kolb-Kokocinski, A., Matchan, A., Vitart, V., Hayward, C., Kolcic, I., Glodzik, D., Wright, AF., Rudan, I., Campbell, H., Durbin, R., Polašek, O., Zeggini, E. and Boraska Perica, V., 2016. Whole-exome sequencing in an isolated population from the Dalmatian island of Vis. Eur J Hum Genet, v. 24
    Doi: http://doi.org/10.1038/ejhg.2016.23
  • Danecek, P., McCarthy, SA., HipSci Consortium, and Durbin, R., 2016. A Method for Checking Genomic Integrity in Cultured Cell Lines from SNP Genotyping Data. PLoS One, v. 11
    Doi: http://doi.org/10.1371/journal.pone.0155014
  • Narasimhan, V., Danecek, P., Scally, A., Xue, Y., Tyler-Smith, C. and Durbin, R., 2016. BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data. Bioinformatics, v. 32
    Doi: 10.1093/bioinformatics/btw044
  • Narasimhan, VM., Hunt, KA., Mason, D., Baker, CL., Karczewski, KJ., Barnes, MR., Barnett, AH., Bates, C., Bellary, S., Bockett, NA., Giorda, K., Griffiths, CJ., Hemingway, H., Jia, Z., Kelly, MA., Khawaja, HA., Lek, M., McCarthy, S., McEachan, R., O'Donnell-Luria, A., Paigen, K., Parisinos, CA., Sheridan, E., Southgate, L., Tee, L., Thomas, M., Xue, Y., Schnall-Levin, M., Petkov, PM., Tyler-Smith, C., Maher, ER., Trembath, RC., MacArthur, DG., Wright, J., Durbin, R. and van Heel, DA., 2016. Health and population effects of rare gene knockouts in adult humans with related parents. Science, v. 352
    Doi: http://doi.org/10.1126/science.aac8624
  • Van Haute, L., Dietmann, S., Kremer, L., Hussain, S., Pearce, SF., Powell, CA., Rorbach, J., Lantaff, R., Blanco, S., Sauer, S., Kotzaeridou, U., Hoffmann, GF., Memari, Y., Kolb-Kokocinski, A., Durbin, R., Mayr, JA., Frye, M., Prokisch, H. and Minczuk, M., 2016. Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nat Commun, v. 7
    Doi: http://doi.org/10.1038/ncomms12039
  • Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T-MT., Texier, Y., van Beersum, SEC., Horn, N., Willer, JR., Mans, DA., Dougherty, G., Lamers, IJC., Coene, KLM., Arts, HH., Betts, MJ., Beyer, T., Bolat, E., Gloeckner, CJ., Haidari, K., Hetterschijt, L., Iaconis, D., Jenkins, D., Klose, F., Knapp, B., Latour, B., Letteboer, SJF., Marcelis, CL., Mitic, D., Morleo, M., Oud, MM., Riemersma, M., Rix, S., Terhal, PA., Toedt, G., van Dam, TJP., de Vrieze, E., Wissinger, Y., Wu, KM., Apic, G., Beales, PL., Blacque, OE., Gibson, TJ., Huynen, MA., Katsanis, N., Kremer, H., Omran, H., van Wijk, E., Wolfrum, U., Kepes, F., Davis, EE., Franco, B., Giles, RH., Ueffing, M., Russell, RB., Roepman, R. and UK10K Rare Diseases Group, , 2016. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun, v. 7
    Doi: http://doi.org/10.1038/ncomms11491
  • McCarthy, S., Das, S., Kretzschmar, W., Delaneau, O., Wood, AR., Teumer, A., Kang, HM., Fuchsberger, C., Danecek, P., Sharp, K., Luo, Y., Sidore, C., Kwong, A., Timpson, N., Koskinen, S., Vrieze, S., Scott, LJ., Zhang, H., Mahajan, A., Veldink, J., Peters, U., Pato, C., van Duijn, CM., Gillies, CE., Gandin, I., Mezzavilla, M., Gilly, A., Cocca, M., Traglia, M., Angius, A., Barrett, JC., Boomsma, D., Branham, K., Breen, G., Brummett, CM., Busonero, F., Campbell, H., Chan, A., Chen, S., Chew, E., Collins, FS., Corbin, LJ., Smith, GD., Dedoussis, G., Dorr, M., Farmaki, A-E., Ferrucci, L., Forer, L., Fraser, RM., Gabriel, S., Levy, S., Groop, L., Harrison, T., Hattersley, A., Holmen, OL., Hveem, K., Kretzler, M., Lee, JC., McGue, M., Meitinger, T., Melzer, D., Min, JL., Mohlke, KL., Vincent, JB., Nauck, M., Nickerson, D., Palotie, A., Pato, M., Pirastu, N., McInnis, M., Richards, JB., Sala, C., Salomaa, V., Schlessinger, D., Schoenherr, S., Slagboom, PE., Small, K., Spector, T., Stambolian, D., Tuke, M., Tuomilehto, J., Van den Berg, LH., Van Rheenen, W., Volker, U., Wijmenga, C., Toniolo, D., Zeggini, E., Gasparini, P., Sampson, MG., Wilson, JF., Frayling, T., de Bakker, PIW., Swertz, MA., McCarroll, S., Kooperberg, C., Dekker, A., Altshuler, D., Willer, C., Iacono, W., Ripatti, S., Soranzo, N., Walter, K., Swaroop, A., Cucca, F., Anderson, CA., Myers, RM., Boehnke, M., McCarthy, MI., Durbin, R. and Haplotype Reference Consortium, , 2016. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet, v. 48
    Doi: http://doi.org/10.1038/ng.3643
  • Kremer, LS., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Küpper, C., Mühlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, GF., Strom, TM., Santer, R., Meitinger, T., Klopstock, T., Prokisch, H. and Haack, TB., 2016. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. Am J Hum Genet, v. 98
    Doi: 10.1016/j.ajhg.2015.12.009
  • 2015

  • Jeffares, DC., Rallis, C., Rieux, A., Speed, D., Převorovský, M., Mourier, T., Marsellach, FX., Iqbal, Z., Lau, W., Cheng, TMK., Pracana, R., Mülleder, M., Lawson, JLD., Chessel, A., Bala, S., Hellenthal, G., O'Fallon, B., Keane, T., Simpson, JT., Bischof, L., Tomiczek, B., Bitton, DA., Sideri, T., Codlin, S., Hellberg, JEEU., van Trigt, L., Jeffery, L., Li, J-J., Atkinson, S., Thodberg, M., Febrer, M., McLay, K., Drou, N., Brown, W., Hayles, J., Carazo Salas, RE., Ralser, M., Maniatis, N., Balding, DJ., Balloux, F., Durbin, R. and Bähler, J., 2015. The genomic and phenotypic diversity of Schizosaccharomyces pombe. Nat Genet, v. 47
    Doi: 10.1038/ng.3215
  • Taylor, PN., Porcu, E., Chew, S., Campbell, PJ., Traglia, M., Brown, SJ., Mullin, BH., Shihab, HA., Min, J., Walter, K., Memari, Y., Huang, J., Barnes, MR., Beilby, JP., Charoen, P., Danecek, P., Dudbridge, F., Forgetta, V., Greenwood, C., Grundberg, E., Johnson, AD., Hui, J., Lim, EM., McCarthy, S., Muddyman, D., Panicker, V., Perry, JRB., Bell, JT., Yuan, W., Relton, C., Gaunt, T., Schlessinger, D., Abecasis, G., Cucca, F., Surdulescu, GL., Woltersdorf, W., Zeggini, E., Zheng, H-F., Toniolo, D., Dayan, CM., Naitza, S., Walsh, JP., Spector, T., Davey Smith, G., Durbin, R., Richards, JB., Sanna, S., Soranzo, N., Timpson, NJ., Wilson, SG. and UK0K Consortium, , 2015. Whole-genome sequence-based analysis of thyroid function. Nat Commun, v. 6
    Doi: 10.1038/ncomms6681
  • Jeffares, DC., Rallis, C., Rieux, A., Speed, D., Převorovský, M., Mourier, T., Marsellach, FX., Iqbal, Z., Lau, W., Cheng, TMK., Pracana, R., Mülleder, M., Lawson, JLD., Chessel, A., Bala, S., Hellenthal, G., O'Fallon, B., Keane, T., Simpson, JT., Bischof, L., Tomiczek, B., Bitton, DA., Sideri, T., Codlin, S., Hellberg, JEEU., Van Trigt, L., Jeffery, L., Li, JJ., Atkinson, S., Thodberg, M., Febrer, M., McLay, K., Drou, N., Brown, W., Hayles, J., Salas, REC., Ralser, M., Maniatis, N., Balding, DJ., Balloux, F., Durbin, R. and Bähler, J., 2015. The genomic and phenotypic diversity of Schizosaccharomyces pombe Nature Genetics, v. 47
    Doi: http://doi.org/10.1038/ng.3215
  • Pagani, L., Schiffels, S., Gurdasani, D., Danecek, P., Scally, A., Chen, Y., Xue, Y., Haber, M., Ekong, R., Oljira, T., Mekonnen, E., Luiselli, D., Bradman, N., Bekele, E., Zalloua, P., Durbin, R., Kivisild, T. and Tyler-Smith, C., 2015. Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians. Am J Hum Genet, v. 96
    Doi: 10.1016/j.ajhg.2015.04.019
  • Schmidts, M., Hou, Y., Cortés, CR., Mans, DA., Huber, C., Boldt, K., Patel, M., van Reeuwijk, J., Plaza, J-M., van Beersum, SEC., Yap, ZM., Letteboer, SJF., Taylor, SP., Herridge, W., Johnson, CA., Scambler, PJ., Ueffing, M., Kayserili, H., Krakow, D., King, SM., UK10K, , Beales, PL., Al-Gazali, L., Wicking, C., Cormier-Daire, V., Roepman, R., Mitchison, HM. and Witman, GB., 2015. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun, v. 6
    Doi: 10.1038/ncomms8074
  • Kaiser, VB., Svinti, V., Prendergast, JG., Chau, Y-Y., Campbell, A., Patarcic, I., Barroso, I., Joshi, PK., Hastie, ND., Miljkovic, A., Taylor, MS., Generation Scotland, , UK10K, , Enroth, S., Memari, Y., Kolb-Kokocinski, A., Wright, AF., Gyllensten, U., Durbin, R., Rudan, I., Campbell, H., Polašek, O., Johansson, Å., Sauer, S., Porteous, DJ., Fraser, RM., Drake, C., Vitart, V., Hayward, C., Semple, CA. and Wilson, JF., 2015. Homozygous loss-of-function variants in European cosmopolitan and isolate populations. Hum Mol Genet, v. 24
    Doi: http://doi.org/10.1093/hmg/ddv272
  • Raghavan, M., Steinrücken, M., Harris, K., Schiffels, S., Rasmussen, S., DeGiorgio, M., Albrechtsen, A., Valdiosera, C., Ávila-Arcos, MC., Malaspinas, A-S., Eriksson, A., Moltke, I., Metspalu, M., Homburger, JR., Wall, J., Cornejo, OE., Moreno-Mayar, JV., Korneliussen, TS., Pierre, T., Rasmussen, M., Campos, PF., de Barros Damgaard, P., Allentoft, ME., Lindo, J., Metspalu, E., Rodríguez-Varela, R., Mansilla, J., Henrickson, C., Seguin-Orlando, A., Malmström, H., Stafford, T., Shringarpure, SS., Moreno-Estrada, A., Karmin, M., Tambets, K., Bergström, A., Xue, Y., Warmuth, V., Friend, AD., Singarayer, J., Valdes, P., Balloux, F., Leboreiro, I., Vera, JL., Rangel-Villalobos, H., Pettener, D., Luiselli, D., Davis, LG., Heyer, E., Zollikofer, CPE., Ponce de León, MS., Smith, CI., Grimes, V., Pike, K-A., Deal, M., Fuller, BT., Arriaza, B., Standen, V., Luz, MF., Ricaut, F., Guidon, N., Osipova, L., Voevoda, MI., Posukh, OL., Balanovsky, O., Lavryashina, M., Bogunov, Y., Khusnutdinova, E., Gubina, M., Balanovska, E., Fedorova, S., Litvinov, S., Malyarchuk, B., Derenko, M., Mosher, MJ., Archer, D., Cybulski, J., Petzelt, B., Mitchell, J., Worl, R., Norman, PJ., Parham, P., Kemp, BM., Kivisild, T., Tyler-Smith, C., Sandhu, MS., Crawford, M., Villems, R., Smith, DG., Waters, MR., Goebel, T., Johnson, JR., Malhi, RS., Jakobsson, M., Meltzer, DJ., Manica, A., Durbin, R., Bustamante, CD., Song, YS., Nielsen, R. and Willerslev, E., 2015. POPULATION GENETICS. Genomic evidence for the Pleistocene and recent population history of Native Americans. Science, v. 349
    Doi: 10.1126/science.aab3884
  • Church, DM., Schneider, VA., Steinberg, KM., Schatz, MC., Quinlan, AR., Chin, C-S., Kitts, PA., Aken, B., Marth, GT., Hoffman, MM., Herrero, J., Mendoza, MLZ., Durbin, R. and Flicek, P., 2015. Extending reference assembly models. Genome Biol, v. 16
    Doi: 10.1186/s13059-015-0587-3
  • Huang, J., Howie, B., McCarthy, S., Memari, Y., Walter, K., Min, JL., Danecek, P., Malerba, G., Trabetti, E., Zheng, H-F., UK10K Consortium, , Gambaro, G., Richards, JB., Durbin, R., Timpson, NJ., Marchini, J. and Soranzo, N., 2015. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nat Commun, v. 6
    Doi: 10.1038/ncomms9111
  • Chen, J-H., Segni, M., Payne, F., Huang-Doran, I., Sleigh, A., Adams, C., UK10K Consortium, , Savage, DB., O'Rahilly, S., Semple, RK. and Barroso, I., 2015. Truncation of POC1A associated with short stature and extreme insulin resistance. J Mol Endocrinol, v. 55
    Doi: http://doi.org/10.1530/JME-15-0090
  • 1000 Genomes Project Consortium, , Auton, A., Brooks, LD., Durbin, RM., Garrison, EP., Kang, HM., Korbel, JO., Marchini, JL., McCarthy, S., McVean, GA. and Abecasis, GR., 2015. A global reference for human genetic variation. Nature, v. 526
    Doi: 10.1038/nature15393
  • UK10K Consortium, , Walter, K., Min, JL., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, JRB., Xu, C., Futema, M., Lawson, D., Iotchkova, V., Schiffels, S., Hendricks, AE., Danecek, P., Li, R., Floyd, J., Wain, LV., Barroso, I., Humphries, SE., Hurles, ME., Zeggini, E., Barrett, JC., Plagnol, V., Richards, JB., Greenwood, CMT., Timpson, NJ., Durbin, R. and Soranzo, N., 2015. The UK10K project identifies rare variants in health and disease. Nature, v. 526
    Doi: 10.1038/nature14962
  • Zheng, H-F., Forgetta, V., Hsu, Y-H., Estrada, K., Rosello-Diez, A., Leo, PJ., Dahia, CL., Park-Min, KH., Tobias, JH., Kooperberg, C., Kleinman, A., Styrkarsdottir, U., Liu, C-T., Uggla, C., Evans, DS., Nielson, CM., Walter, K., Pettersson-Kymmer, U., McCarthy, S., Eriksson, J., Kwan, T., Jhamai, M., Trajanoska, K., Memari, Y., Min, J., Huang, J., Danecek, P., Wilmot, B., Li, R., Chou, W-C., Mokry, LE., Moayyeri, A., Claussnitzer, M., Cheng, C-H., Cheung, W., Medina-Gómez, C., Ge, B., Chen, S-H., Choi, K., Oei, L., Fraser, J., Kraaij, R., Hibbs, MA., Gregson, CL., Paquette, D., Hofman, A., Wibom, C., Tranah, GJ., Marshall, M., Gardiner, BB., Cremin, K., Auer, P., Hsu, L., Ring, S., Tung, JY., Thorleifsson, G., Enneman, AW., van Schoor, NM., de Groot, LCPGM., van der Velde, N., Melin, B., Kemp, JP., Christiansen, C., Sayers, A., Zhou, Y., Calderari, S., van Rooij, J., Carlson, C., Peters, U., Berlivet, S., Dostie, J., Uitterlinden, AG., Williams, SR., Farber, C., Grinberg, D., LaCroix, AZ., Haessler, J., Chasman, DI., Giulianini, F., Rose, LM., Ridker, PM., Eisman, JA., Nguyen, TV., Center, JR., Nogues, X., Garcia-Giralt, N., Launer, LL., Gudnason, V., Mellström, D., Vandenput, L., Amin, N., van Duijn, CM., Karlsson, MK., Ljunggren, Ö., Svensson, O., Hallmans, G., Rousseau, F., Giroux, S., Bussière, J., Arp, PP., Koromani, F., Prince, RL., Lewis, JR., Langdahl, BL., Hermann, AP., Jensen, J-EB., Kaptoge, S., Khaw, K-T., Reeve, J., Formosa, MM., Xuereb-Anastasi, A., Åkesson, K., McGuigan, FE., Garg, G., Olmos, JM., Zarrabeitia, MT., Riancho, JA., Ralston, SH., Alonso, N., Jiang, X., Goltzman, D., Pastinen, T., Grundberg, E., Gauguier, D., Orwoll, ES., Karasik, D., Davey-Smith, G., AOGC Consortium, , Smith, AV., Siggeirsdottir, K., Harris, TB., Zillikens, MC., van Meurs, JBJ., Thorsteinsdottir, U., Maurano, MT., Timpson, NJ., Soranzo, N., Durbin, R., Wilson, SG., Ntzani, EE., Brown, MA., Stefansson, K., Hinds, DA., Spector, T., Cupples, LA., Ohlsson, C., Greenwood, CMT., UK10K Consortium, , Jackson, RD., Rowe, DW., Loomis, CA., Evans, DM., Ackert-Bicknell, CL., Joyner, AL., Duncan, EL., Kiel, DP., Rivadeneira, F. and Richards, JB., 2015. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature, v. 526
    Doi: 10.1038/nature14878
  • Malinsky, M., Challis, RJ., Tyers, AM., Schiffels, S., Terai, Y., Ngatunga, BP., Miska, EA., Durbin, R., Genner, MJ. and Turner, GF., 2015. Genomic islands of speciation separate cichlid ecomorphs in an East African crater lake. Science, v. 350
    Doi: 10.1126/science.aac9927
  • Buil, A., Brown, AA., Lappalainen, T., Viñuela, A., Davies, MN., Zheng, H-F., Richards, JB., Glass, D., Small, KS., Durbin, R., Spector, TD. and Dermitzakis, ET., 2015. Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins. Nat Genet, v. 47
    Doi: 10.1038/ng.3162
  • Frommer, A., Hjeij, R., Loges, NT., Edelbusch, C., Jahnke, C., Raidt, J., Werner, C., Wallmeier, J., Große-Onnebrink, J., Olbrich, H., Cindrić, S., Jaspers, M., Boon, M., Memari, Y., Durbin, R., Kolb-Kokocinski, A., Sauer, S., Marthin, JK., Nielsen, KG., Amirav, I., Elias, N., Kerem, E., Shoseyov, D., Haeffner, K. and Omran, H., 2015. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. Am J Respir Cell Mol Biol, v. 53
    Doi: http://doi.org/10.1165/rcmb.2014-0483OC
  • Anand Brown, A., Ding, Z., Viñuela, A., Glass, D., Parts, L., Spector, T., Winn, J. and Durbin, R., 2015. Pathway-based factor analysis of gene expression data produces highly heritable phenotypes that associate with age. G3 (Bethesda), v. 5
    Doi: 10.1534/g3.114.011411
  • Haack, TB., Jackson, CB., Murayama, K., Kremer, LS., Schaller, A., Kotzaeridou, U., de Vries, MC., Schottmann, G., Santra, S., Büchner, B., Wieland, T., Graf, E., Freisinger, P., Eggimann, S., Ohtake, A., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Sauer, S., Memari, Y., Kolb-Kokocinski, A., Durbin, R., Hasselmann, O., Cremer, K., Albrecht, B., Wieczorek, D., Engels, H., Hahn, D., Zink, AM., Alston, CL., Taylor, RW., Rodenburg, RJ., Trollmann, R., Sperl, W., Strom, TM., Hoffmann, GF., Mayr, JA., Meitinger, T., Bolognini, R., Schuelke, M., Nuoffer, J-M., Kölker, S., Prokisch, H. and Klopstock, T., 2015. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol, v. 2
    Doi: http://doi.org/10.1002/acn3.189
  • 2014

  • Colonna, V., Ayub, Q., Chen, Y., Pagani, L., Luisi, P., Pybus, M., Garrison, E., Xue, Y., Tyler-Smith, C., 1000 Genomes Project Consortium, , Abecasis, GR., Auton, A., Brooks, LD., DePristo, MA., Durbin, RM., Handsaker, RE., Kang, HM., Marth, GT. and McVean, GA., 2014. Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. Genome Biol, v. 15
    Doi: http://doi.org/10.1186/gb-2014-15-6-r88
  • Delaneau, O., Marchini, J., 1000 Genomes Project Consortium, and 1000 Genomes Project Consortium, , 2014. Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. Nat Commun, v. 5
    Doi: http://doi.org/10.1038/ncomms4934
  • Young, AI. and Durbin, R., 2014. Estimation of epistatic variance components and heritability in founder populations and crosses. Genetics, v. 198
    Doi: http://doi.org/10.1534/genetics.114.170795
  • Brown, AA., Buil, A., Viñuela, A., Lappalainen, T., Zheng, H-F., Richards, JB., Small, KS., Spector, TD., Dermitzakis, ET. and Durbin, R., 2014. Genetic interactions affecting human gene expression identified by variance association mapping. Elife, v. 3
    Doi: 10.7554/eLife.01381
  • Ding, Z., Mangino, M., Aviv, A., Spector, T., Durbin, R. and UK10K Consortium, , 2014. Estimating telomere length from whole genome sequence data. Nucleic Acids Res, v. 42
    Doi: 10.1093/nar/gku181
  • Timpson, NJ., Walter, K., Min, JL., Tachmazidou, I., Malerba, G., Shin, S-Y., Chen, L., Futema, M., Southam, L., Iotchkova, V., Cocca, M., Huang, J., Memari, Y., McCarthy, S., Danecek, P., Muddyman, D., Mangino, M., Menni, C., Perry, JRB., Ring, SM., Gaye, A., Dedoussis, G., Farmaki, A-E., Burton, P., Talmud, PJ., Gambaro, G., Spector, TD., Smith, GD., Durbin, R., Richards, JB., Humphries, SE., Zeggini, E., Soranzo, N., UK1OK Consortium Members, and UK1OK Consortium Members, , 2014. A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nat Commun, v. 5
    Doi: http://doi.org/10.1038/ncomms5871
  • Schiffels, S. and Durbin, R., 2014. Inferring human population size and separation history from multiple genome sequences. Nat Genet, v. 46
    Doi: 10.1038/ng.3015
  • Bergström, A., Simpson, JT., Salinas, F., Barré, B., Parts, L., Zia, A., Nguyen Ba, AN., Moses, AM., Louis, EJ., Mustonen, V., Warringer, J., Durbin, R. and Liti, G., 2014. A high-definition view of functional genetic variation from natural yeast genomes. Mol Biol Evol, v. 31
    Doi: 10.1093/molbev/msu037
  • Ding, Z., Ni, Y., Timmer, SW., Lee, B-K., Battenhouse, A., Louzada, S., Yang, F., Dunham, I., Crawford, GE., Lieb, JD., Durbin, R., Iyer, VR. and Birney, E., 2014. Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association. PLoS Genet, v. 10
    Doi: 10.1371/journal.pgen.1004798
  • Durbin, R., 2014. Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT). Bioinformatics, v. 30
    Doi: http://doi.org/10.1093/bioinformatics/btu014
  • Young, AI. and Durbin, R., 2014. Estimation of Epistatic Variance Components and Heritability in Founder Populations and Crosses GENETICS, v. 198
    Doi: 10.1534/genetics.114.170795
  • Kaye, J., Hurles, M., Griffin, H., Grewal, J., Bobrow, M., Timpson, N., Smee, C., Bolton, P., Durbin, R., Dyke, S., Fitzpatrick, D., Kennedy, K., Kent, A., Muddyman, D., Muntoni, F., Raymond, LF., Semple, R., Spector, T. and UK 10K, , 2014. Managing clinically significant findings in research: the UK10K example. Eur J Hum Genet, v. 22
    Doi: 10.1038/ejhg.2013.290
  • 2013

  • Altschul, S., Demchak, B., Durbin, R., Gentleman, R., Krzywinski, M., Li, H., Nekrutenko, A., Robinson, J., Rasband, W., Taylor, J. and Trapnell, C., 2013. The anatomy of successful computational biology software. Nat Biotechnol, v. 31
    Doi: http://doi.org/10.1038/nbt.2721
  • Glass, D., Viñuela, A., Davies, MN., Ramasamy, A., Parts, L., Knowles, D., Brown, AA., Hedman, AK., Small, KS., Buil, A., Grundberg, E., Nica, AC., Di Meglio, P., Nestle, FO., Ryten, M., UK Brain Expression consortium, , MuTHER consortium, , Durbin, R., McCarthy, MI., Deloukas, P., Dermitzakis, ET., Weale, ME., Bataille, V. and Spector, TD., 2013. Gene expression changes with age in skin, adipose tissue, blood and brain. Genome Biol, v. 14
    Doi: http://doi.org/10.1186/gb-2013-14-7-r75
  • Bradnam, KR., Fass, JN., Alexandrov, A., Baranay, P., Bechner, M., Birol, I., Boisvert, S., Chapman, JA., Chapuis, G., Chikhi, R., Chitsaz, H., Chou, W-C., Corbeil, J., Del Fabbro, C., Docking, TR., Durbin, R., Earl, D., Emrich, S., Fedotov, P., Fonseca, NA., Ganapathy, G., Gibbs, RA., Gnerre, S., Godzaridis, E., Goldstein, S., Haimel, M., Hall, G., Haussler, D., Hiatt, JB., Ho, IY., Howard, J., Hunt, M., Jackman, SD., Jaffe, DB., Jarvis, ED., Jiang, H., Kazakov, S., Kersey, PJ., Kitzman, JO., Knight, JR., Koren, S., Lam, T-W., Lavenier, D., Laviolette, F., Li, Y., Li, Z., Liu, B., Liu, Y., Luo, R., Maccallum, I., Macmanes, MD., Maillet, N., Melnikov, S., Naquin, D., Ning, Z., Otto, TD., Paten, B., Paulo, OS., Phillippy, AM., Pina-Martins, F., Place, M., Przybylski, D., Qin, X., Qu, C., Ribeiro, FJ., Richards, S., Rokhsar, DS., Ruby, JG., Scalabrin, S., Schatz, MC., Schwartz, DC., Sergushichev, A., Sharpe, T., Shaw, TI., Shendure, J., Shi, Y., Simpson, JT., Song, H., Tsarev, F., Vezzi, F., Vicedomini, R., Vieira, BM., Wang, J., Worley, KC., Yin, S., Yiu, S-M., Yuan, J., Zhang, G., Zhang, H., Zhou, S. and Korf, IF., 2013. Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience, v. 2
    Doi: http://doi.org/10.1186/2047-217X-2-10
  • Scally, A., Yngvadottir, B., Xue, Y., Ayub, Q., Durbin, R. and Tyler-Smith, C., 2013. A genome-wide survey of genetic variation in gorillas using reduced representation sequencing. PLoS One, v. 8
    Doi: 10.1371/journal.pone.0065066
  • Khurana, E., Fu, Y., Colonna, V., Mu, XJ., Kang, HM., Lappalainen, T., Sboner, A., Lochovsky, L., Chen, J., Harmanci, A., Das, J., Abyzov, A., Balasubramanian, S., Beal, K., Chakravarty, D., Challis, D., Chen, Y., Clarke, D., Clarke, L., Cunningham, F., Evani, US., Flicek, P., Fragoza, R., Garrison, E., Gibbs, R., Gümüş, ZH., Herrero, J., Kitabayashi, N., Kong, Y., Lage, K., Liluashvili, V., Lipkin, SM., MacArthur, DG., Marth, G., Muzny, D., Pers, TH., Ritchie, GRS., Rosenfeld, JA., Sisu, C., Wei, X., Wilson, M., Xue, Y., Yu, F., 1000 Genomes Project Consortium, , Dermitzakis, ET., Yu, H., Rubin, MA., Tyler-Smith, C. and Gerstein, M., 2013. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science, v. 342
    Doi: 10.1126/science.1235587
  • Cubillos, FA., Parts, L., Salinas, F., Bergström, A., Scovacricchi, E., Zia, A., Illingworth, CJR., Mustonen, V., Ibstedt, S., Warringer, J., Louis, EJ., Durbin, R. and Liti, G., 2013. High-resolution mapping of complex traits with a four-parent advanced intercross yeast population. Genetics, v. 195
    Doi: 10.1534/genetics.113.155515
  • 2012

  • Danecek, P., Nellåker, C., McIntyre, RE., Buendia-Buendia, JE., Bumpstead, S., Ponting, CP., Flint, J., Durbin, R., Keane, TM. and Adams, DJ., 2012. High levels of RNA-editing site conservation amongst 15 laboratory mouse strains. Genome Biol, v. 13
    Doi: http://doi.org/10.1186/gb-2012-13-4-r26
  • Howe, K., Davis, P., Paulini, M., Tuli, MA., Williams, G., Yook, K., Durbin, R., Kersey, P. and Sternberg, PW., 2012. WormBase: Annotating many nematode genomes. Worm, v. 1
    Doi: 10.4161/worm.19574
  • Yook, K., Harris, TW., Bieri, T., Cabunoc, A., Chan, J., Chen, WJ., Davis, P., de la Cruz, N., Duong, A., Fang, R., Ganesan, U., Grove, C., Howe, K., Kadam, S., Kishore, R., Lee, R., Li, Y., Muller, H-M., Nakamura, C., Nash, B., Ozersky, P., Paulini, M., Raciti, D., Rangarajan, A., Schindelman, G., Shi, X., Schwarz, EM., Ann Tuli, M., Van Auken, K., Wang, D., Wang, X., Williams, G., Hodgkin, J., Berriman, M., Durbin, R., Kersey, P., Spieth, J., Stein, L. and Sternberg, PW., 2012. WormBase 2012: more genomes, more data, new website. Nucleic Acids Research, v. 40
    Doi: http://doi.org/10.1093/nar/gkr954
  • Flicek, P., Amode, MR., Barrell, D., Beal, K., Brent, S., Carvalho-Silva, D., Clapham, P., Coates, G., Fairley, S., Fitzgerald, S., Gil, L., Gordon, L., Hendrix, M., Hourlier, T., Johnson, N., Kähäri, AK., Keefe, D., Keenan, S., Kinsella, R., Komorowska, M., Koscielny, G., Kulesha, E., Larsson, P., Longden, I., McLaren, W., Muffato, M., Overduin, B., Pignatelli, M., Pritchard, B., Riat, HS., Ritchie, GRS., Ruffier, M., Schuster, M., Sobral, D., Tang, YA., Taylor, K., Trevanion, S., Vandrovcova, J., White, S., Wilson, M., Wilder, SP., Aken, BL., Birney, E., Cunningham, F., Dunham, I., Durbin, R., Fernández-Suarez, XM., Harrow, J., Herrero, J., Hubbard, TJP., Parker, A., Proctor, G., Spudich, G., Vogel, J., Yates, A., Zadissa, A. and Searle, SMJ., 2012. Ensembl 2012. Nucleic Acids Res, v. 40
    Doi: http://doi.org/10.1093/nar/gkr991
  • Parts, L., Hedman, ÅK., Keildson, S., Knights, AJ., Abreu-Goodger, C., van de Bunt, M., Guerra-Assunção, JA., Bartonicek, N., van Dongen, S., Mägi, R., Nisbet, J., Barrett, A., Rantalainen, M., Nica, AC., Quail, MA., Small, KS., Glass, D., Enright, AJ., Winn, J., MuTHER Consortium, , Deloukas, P., Dermitzakis, ET., McCarthy, MI., Spector, TD., Durbin, R. and Lindgren, CM., 2012. Extent, causes, and consequences of small RNA expression variation in human adipose tissue. PLoS Genet, v. 8
    Doi: 10.1371/journal.pgen.1002704
  • Simpson, JT. and Durbin, R., 2012. Efficient de novo assembly of large genomes using compressed data structures. Genome Res, v. 22
    Doi: http://doi.org/10.1101/gr.126953.111
  • Grundberg, E., Small, KS., Hedman, ÅK., Nica, AC., Buil, A., Keildson, S., Bell, JT., Yang, T-P., Meduri, E., Barrett, A., Nisbett, J., Sekowska, M., Wilk, A., Shin, S-Y., Glass, D., Travers, M., Min, JL., Ring, S., Ho, K., Thorleifsson, G., Kong, A., Thorsteindottir, U., Ainali, C., Dimas, AS., Hassanali, N., Ingle, C., Knowles, D., Krestyaninova, M., Lowe, CE., Di Meglio, P., Montgomery, SB., Parts, L., Potter, S., Surdulescu, G., Tsaprouni, L., Tsoka, S., Bataille, V., Durbin, R., Nestle, FO., O'Rahilly, S., Soranzo, N., Lindgren, CM., Zondervan, KT., Ahmadi, KR., Schadt, EE., Stefansson, K., Smith, GD., McCarthy, MI., Deloukas, P., Dermitzakis, ET., Spector, TD. and Multiple Tissue Human Expression Resource (MuTHER) Consortium, , 2012. Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet, v. 44
    Doi: http://doi.org/10.1038/ng.2394
  • Scally, A., Dutheil, JY., Hillier, LW., Jordan, GE., Goodhead, I., Herrero, J., Hobolth, A., Lappalainen, T., Mailund, T., Marques-Bonet, T., McCarthy, S., Montgomery, SH., Schwalie, PC., Tang, YA., Ward, MC., Xue, Y., Yngvadottir, B., Alkan, C., Andersen, LN., Ayub, Q., Ball, EV., Beal, K., Bradley, BJ., Chen, Y., Clee, CM., Fitzgerald, S., Graves, TA., Gu, Y., Heath, P., Heger, A., Karakoc, E., Kolb-Kokocinski, A., Laird, GK., Lunter, G., Meader, S., Mort, M., Mullikin, JC., Munch, K., O'Connor, TD., Phillips, AD., Prado-Martinez, J., Rogers, AS., Sajjadian, S., Schmidt, D., Shaw, K., Simpson, JT., Stenson, PD., Turner, DJ., Vigilant, L., Vilella, AJ., Whitener, W., Zhu, B., Cooper, DN., de Jong, P., Dermitzakis, ET., Eichler, EE., Flicek, P., Goldman, N., Mundy, NI., Ning, Z., Odom, DT., Ponting, CP., Quail, MA., Ryder, OA., Searle, SM., Warren, WC., Wilson, RK., Schierup, MH., Rogers, J., Tyler-Smith, C. and Durbin, R., 2012. Insights into hominid evolution from the gorilla genome sequence. Nature, v. 483
    Doi: 10.1038/nature10842
  • Grundberg, E., Small, KS., Hedman, AK., Nica, AC., Buil, A., Keildson, S., Bell, JT., Yang, TP., Meduri, E., Barrett, A., Nisbett, J., Sekowska, M., Wilk, A., Shin, SY., Glass, D., Travers, M., Min, JL., Ring, S., Ho, K., Thorleifsson, G., Kong, A., Thorsteindottir, U., Ainali, C., Dimas, AS., Hassanali, N., Ingle, C., Knowles, D., Krestyaninova, M., Lowe, CE., Di Meglio, P., Montgomery, SB., Parts, L., Potter, S., Surdulescu, G., Tsaprouni, L., Tsoka, S., Bataille, V., Durbin, R., Nestle, FO., O'Rahilly, S., Soranzo, N., Lindgren, CM., Zondervan, KT., Ahmadi, KR., Schadt, EE., Stefansson, K., Smith, GD., McCarthy, MI., Deloukas, P., Dermitzakis, ET. and Spector, TD., 2012. Mapping cis-and trans-regulatory effects across multiple tissues in twins Nature Genetics, v. 44
    Doi: http://doi.org/10.1038/ng.2394
  • 1000 Genomes Project Consortium, , Abecasis, GR., Auton, A., Brooks, LD., DePristo, MA., Durbin, RM., Handsaker, RE., Kang, HM., Marth, GT. and McVean, GA., 2012. An integrated map of genetic variation from 1,092 human genomes. Nature, v. 491
    Doi: 10.1038/nature11632
  • Scally, A. and Durbin, R., 2012. Revising the human mutation rate: implications for understanding human evolution. Nat Rev Genet, v. 13
    Doi: 10.1038/nrg3295
  • Stegle, O., Parts, L., Piipari, M., Winn, J. and Durbin, R., 2012. Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses. Nat Protoc, v. 7
    Doi: http://doi.org/10.1038/nprot.2011.457
  • Stranger, BE., Montgomery, SB., Dimas, AS., Parts, L., Stegle, O., Ingle, CE., Sekowska, M., Smith, GD., Evans, D., Gutierrez-Arcelus, M., Price, A., Raj, T., Nisbett, J., Nica, AC., Beazley, C., Durbin, R., Deloukas, P. and Dermitzakis, ET., 2012. Patterns of cis regulatory variation in diverse human populations. PLoS Genet, v. 8
    Doi: http://doi.org/10.1371/journal.pgen.1002639
  • 2011

  • Parts, L., Stegle, O., Winn, J. and Durbin, R., 2011. Joint genetic analysis of gene expression data with inferred cellular phenotypes. PLoS Genet, v. 7
    Doi: http://doi.org/10.1371/journal.pgen.1001276
  • Albers, CA., Lunter, G., MacArthur, DG., McVean, G., Ouwehand, WH. and Durbin, R., 2011. Dindel: accurate indel calls from short-read data. Genome Res, v. 21
    Doi: http://doi.org/10.1101/gr.112326.110
  • Li, H. and Durbin, R., 2011. Inference of human population history from individual whole-genome sequences. Nature, v. 475
    Doi: http://doi.org/10.1038/nature10231
  • Nica, AC., Parts, L., Glass, D., Nisbet, J., Barrett, A., Sekowska, M., Travers, M., Potter, S., Grundberg, E., Small, K., Hedman, AK., Bataille, V., Tzenova Bell, J., Surdulescu, G., Dimas, AS., Ingle, C., Nestle, FO., di Meglio, P., Min, JL., Wilk, A., Hammond, CJ., Hassanali, N., Yang, T-P., Montgomery, SB., O'Rahilly, S., Lindgren, CM., Zondervan, KT., Soranzo, N., Barroso, I., Durbin, R., Ahmadi, K., Deloukas, P., McCarthy, MI., Dermitzakis, ET., Spector, TD. and MuTHER Consortium, , 2011. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet, v. 7
    Doi: http://doi.org/10.1371/journal.pgen.1002003
  • Mills, RE., Walter, K., Stewart, C., Handsaker, RE., Chen, K., Alkan, C., Abyzov, A., Yoon, SC., Ye, K., Cheetham, RK., Chinwalla, A., Conrad, DF., Fu, Y., Grubert, F., Hajirasouliha, I., Hormozdiari, F., Iakoucheva, LM., Iqbal, Z., Kang, S., Kidd, JM., Konkel, MK., Korn, J., Khurana, E., Kural, D., Lam, HYK., Leng, J., Li, R., Li, Y., Lin, C-Y., Luo, R., Mu, XJ., Nemesh, J., Peckham, HE., Rausch, T., Scally, A., Shi, X., Stromberg, MP., Stütz, AM., Urban, AE., Walker, JA., Wu, J., Zhang, Y., Zhang, ZD., Batzer, MA., Ding, L., Marth, GT., McVean, G., Sebat, J., Snyder, M., Wang, J., Ye, K., Eichler, EE., Gerstein, MB., Hurles, ME., Lee, C., McCarroll, SA., Korbel, JO. and 1000 Genomes Project, , 2011. Mapping copy number variation by population-scale genome sequencing. Nature, v. 470
    Doi: 10.1038/nature09708
  • Danecek, P., Auton, A., Abecasis, G., Albers, CA., Banks, E., DePristo, MA., Handsaker, RE., Lunter, G., Marth, GT., Sherry, ST., McVean, G., Durbin, R. and 1000 Genomes Project Analysis Group, , 2011. The variant call format and VCFtools. Bioinformatics, v. 27
    Doi: http://doi.org/10.1093/bioinformatics/btr330
  • Le, SQ. and Durbin, R., 2011. SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples. Genome Res, v. 21
    Doi: http://doi.org/10.1101/gr.113084.110
  • Flicek, P., Amode, MR., Barrell, D., Beal, K., Brent, S., Chen, Y., Clapham, P., Coates, G., Fairley, S., Fitzgerald, S., Gordon, L., Hendrix, M., Hourlier, T., Johnson, N., Kähäri, A., Keefe, D., Keenan, S., Kinsella, R., Kokocinski, F., Kulesha, E., Larsson, P., Longden, I., McLaren, W., Overduin, B., Pritchard, B., Riat, HS., Rios, D., Ritchie, GRS., Ruffier, M., Schuster, M., Sobral, D., Spudich, G., Tang, YA., Trevanion, S., Vandrovcova, J., Vilella, AJ., White, S., Wilder, SP., Zadissa, A., Zamora, J., Aken, BL., Birney, E., Cunningham, F., Dunham, I., Durbin, R., Fernández-Suarez, XM., Herrero, J., Hubbard, TJP., Parker, A., Proctor, G., Vogel, J. and Searle, SMJ., 2011. Ensembl 2011. Nucleic Acids Res, v. 39
    Doi: http://doi.org/10.1093/nar/gkq1064
  • Earl, D., Bradnam, K., St John, J., Darling, A., Lin, D., Fass, J., Yu, HOK., Buffalo, V., Zerbino, DR., Diekhans, M., Nguyen, N., Ariyaratne, PN., Sung, W-K., Ning, Z., Haimel, M., Simpson, JT., Fonseca, NA., Birol, İ., Docking, TR., Ho, IY., Rokhsar, DS., Chikhi, R., Lavenier, D., Chapuis, G., Naquin, D., Maillet, N., Schatz, MC., Kelley, DR., Phillippy, AM., Koren, S., Yang, S-P., Wu, W., Chou, W-C., Srivastava, A., Shaw, TI., Ruby, JG., Skewes-Cox, P., Betegon, M., Dimon, MT., Solovyev, V., Seledtsov, I., Kosarev, P., Vorobyev, D., Ramirez-Gonzalez, R., Leggett, R., MacLean, D., Xia, F., Luo, R., Li, Z., Xie, Y., Liu, B., Gnerre, S., MacCallum, I., Przybylski, D., Ribeiro, FJ., Yin, S., Sharpe, T., Hall, G., Kersey, PJ., Durbin, R., Jackman, SD., Chapman, JA., Huang, X., DeRisi, JL., Caccamo, M., Li, Y., Jaffe, DB., Green, RE., Haussler, D., Korf, I. and Paten, B., 2011. Assemblathon 1: a competitive assessment of de novo short read assembly methods. Genome Res, v. 21
    Doi: http://doi.org/10.1101/gr.126599.111
  • Keane, TM., Goodstadt, L., Danecek, P., White, MA., Wong, K., Yalcin, B., Heger, A., Agam, A., Slater, G., Goodson, M., Furlotte, NA., Eskin, E., Nellåker, C., Whitley, H., Cleak, J., Janowitz, D., Hernandez-Pliego, P., Edwards, A., Belgard, TG., Oliver, PL., McIntyre, RE., Bhomra, A., Nicod, J., Gan, X., Yuan, W., van der Weyden, L., Steward, CA., Bala, S., Stalker, J., Mott, R., Durbin, R., Jackson, IJ., Czechanski, A., Guerra-Assunção, JA., Donahue, LR., Reinholdt, LG., Payseur, BA., Ponting, CP., Birney, E., Flint, J. and Adams, DJ., 2011. Mouse genomic variation and its effect on phenotypes and gene regulation. Nature, v. 477
    Doi: http://doi.org/10.1038/nature10413
  • Warringer, J., Zörgö, E., Cubillos, FA., Zia, A., Gjuvsland, A., Simpson, JT., Forsmark, A., Durbin, R., Omholt, SW., Louis, EJ., Liti, G., Moses, A. and Blomberg, A., 2011. Trait variation in yeast is defined by population history. PLoS Genet, v. 7
    Doi: http://doi.org/10.1371/journal.pgen.1002111
  • Parts, L., Cubillos, FA., Warringer, J., Jain, K., Salinas, F., Bumpstead, SJ., Molin, M., Zia, A., Simpson, JT., Quail, MA., Moses, A., Louis, EJ., Durbin, R. and Liti, G., 2011. Revealing the genetic structure of a trait by sequencing a population under selection. Genome Res, v. 21
    Doi: http://doi.org/10.1101/gr.116731.110
  • Palin, K., Campbell, H., Wright, AF., Wilson, JF. and Durbin, R., 2011. Identity-by-descent-based phasing and imputation in founder populations using graphical models. Genet Epidemiol, v. 35
    Doi: http://doi.org/10.1002/gepi.20635
  • 2010

  • Flicek, P., Aken, BL., Ballester, B., Beal, K., Bragin, E., Brent, S., Chen, Y., Clapham, P., Coates, G., Fairley, S., Fitzgerald, S., Fernandez-Banet, J., Gordon, L., Gräf, S., Haider, S., Hammond, M., Howe, K., Jenkinson, A., Johnson, N., Kähäri, A., Keefe, D., Keenan, S., Kinsella, R., Kokocinski, F., Koscielny, G., Kulesha, E., Lawson, D., Longden, I., Massingham, T., McLaren, W., Megy, K., Overduin, B., Pritchard, B., Rios, D., Ruffier, M., Schuster, M., Slater, G., Smedley, D., Spudich, G., Tang, YA., Trevanion, S., Vilella, A., Vogel, J., White, S., Wilder, SP., Zadissa, A., Birney, E., Cunningham, F., Dunham, I., Durbin, R., Fernández-Suarez, XM., Herrero, J., Hubbard, TJP., Parker, A., Proctor, G., Smith, J. and Searle, SMJ., 2010. Ensembl's 10th year. Nucleic Acids Res, v. 38
    Doi: http://doi.org/10.1093/nar/gkp972
  • Li, H. and Durbin, R., 2010. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics, v. 26
    Doi: http://doi.org/10.1093/bioinformatics/btp698
  • 1000 Genomes Project Consortium, , Abecasis, GR., Altshuler, D., Auton, A., Brooks, LD., Durbin, RM., Gibbs, RA., Hurles, ME. and McVean, GA., 2010. A map of human genome variation from population-scale sequencing. Nature, v. 467
    Doi: http://doi.org/10.1038/nature09534
  • Neumann, B., Walter, T., Hériché, J-K., Bulkescher, J., Erfle, H., Conrad, C., Rogers, P., Poser, I., Held, M., Liebel, U., Cetin, C., Sieckmann, F., Pau, G., Kabbe, R., Wünsche, A., Satagopam, V., Schmitz, MHA., Chapuis, C., Gerlich, DW., Schneider, R., Eils, R., Huber, W., Peters, J-M., Hyman, AA., Durbin, R., Pepperkok, R. and Ellenberg, J., 2010. Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes. Nature, v. 464
    Doi: http://doi.org/10.1038/nature08869
  • Sudmant, PH., Kitzman, JO., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., 1000 Genomes Project, and Eichler, EE., 2010. Diversity of human copy number variation and multicopy genes. Science, v. 330
    Doi: http://doi.org/10.1126/science.1197005
  • Stegle, O., Parts, L., Durbin, R. and Winn, J., 2010. A Bayesian framework to account for complex non-genetic factors in gene expression levels greatly increases power in eQTL studies. PLoS Comput Biol, v. 6
    Doi: http://doi.org/10.1371/journal.pcbi.1000770
  • Hutchins, JRA., Toyoda, Y., Hegemann, B., Poser, I., Hériché, J-K., Sykora, MM., Augsburg, M., Hudecz, O., Buschhorn, BA., Bulkescher, J., Conrad, C., Comartin, D., Schleiffer, A., Sarov, M., Pozniakovsky, A., Slabicki, MM., Schloissnig, S., Steinmacher, I., Leuschner, M., Ssykor, A., Lawo, S., Pelletier, L., Stark, H., Nasmyth, K., Ellenberg, J., Durbin, R., Buchholz, F., Mechtler, K., Hyman, AA. and Peters, J-M., 2010. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Science, v. 328
    Doi: http://doi.org/10.1126/science.1181348
  • Simpson, JT., McIntyre, RE., Adams, DJ. and Durbin, R., 2010. Copy number variant detection in inbred strains from short read sequence data. Bioinformatics, v. 26
    Doi: 10.1093/bioinformatics/btp693
  • Harris, TW., Antoshechkin, I., Bieri, T., Blasiar, D., Chan, J., Chen, WJ., De La Cruz, N., Davis, P., Duesbury, M., Fang, R., Fernandes, J., Han, M., Kishore, R., Lee, R., Müller, H-M., Nakamura, C., Ozersky, P., Petcherski, A., Rangarajan, A., Rogers, A., Schindelman, G., Schwarz, EM., Tuli, MA., Van Auken, K., Wang, D., Wang, X., Williams, G., Yook, K., Durbin, R., Stein, LD., Spieth, J. and Sternberg, PW., 2010. WormBase: a comprehensive resource for nematode research. Nucleic Acids Res, v. 38
    Doi: http://doi.org/10.1093/nar/gkp952
  • 2009

  • Toronto International Data Release Workshop Authors, , Birney, E., Hudson, TJ., Green, ED., Gunter, C., Eddy, S., Rogers, J., Harris, JR., Ehrlich, SD., Apweiler, R., Austin, CP., Berglund, L., Bobrow, M., Bountra, C., Brookes, AJ., Cambon-Thomsen, A., Carter, NP., Chisholm, RL., Contreras, JL., Cooke, RM., Crosby, WL., Dewar, K., Durbin, R., Dyke, SOM., Ecker, JR., El Emam, K., Feuk, L., Gabriel, SB., Gallacher, J., Gelbart, WM., Granell, A., Guarner, F., Hubbard, T., Jackson, SA., Jennings, JL., Joly, Y., Jones, SM., Kaye, J., Kennedy, KL., Knoppers, BM., Kyrpides, NC., Lowrance, WW., Luo, J., MacKay, JJ., Martín-Rivera, L., McCombie, WR., McPherson, JD., Miller, L., Miller, W., Moerman, D., Mooser, V., Morton, CC., Ostell, JM., Ouellette, BFF., Parkhill, J., Raina, PS., Rawlings, C., Scherer, SE., Scherer, SW., Schofield, PN., Sensen, CW., Stodden, VC., Sussman, MR., Tanaka, T., Thornton, J., Tsunoda, T., Valle, D., Vuorio, EI., Walker, NM., Wallace, S., Weinstock, G., Whitman, WB., Worley, KC., Wu, C., Wu, J. and Yu, J., 2009. Prepublication data sharing. Nature, v. 461
    Doi: 10.1038/461168a
  • Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R. and 1000 Genome Project Data Processing Subgroup, , 2009. The Sequence Alignment/Map format and SAMtools. Bioinformatics, v. 25
    Doi: http://doi.org/10.1093/bioinformatics/btp352
  • Li, H. and Durbin, R., 2009. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics, v. 25
    Doi: http://doi.org/10.1093/bioinformatics/btp324
  • Sudbery, I., Stalker, J., Simpson, JT., Keane, T., Rust, AG., Hurles, ME., Walter, K., Lynch, D., Teboul, L., Brown, SD., Li, H., Ning, Z., Nadeau, JH., Croniger, CM., Durbin, R. and Adams, DJ., 2009. Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels. Genome Biol, v. 10
    Doi: http://doi.org/10.1186/gb-2009-10-10-r112
  • Liti, G., Carter, DM., Moses, AM., Warringer, J., Parts, L., James, SA., Davey, RP., Roberts, IN., Burt, A., Koufopanou, V., Tsai, IJ., Bergman, CM., Bensasson, D., O'Kelly, MJT., van Oudenaarden, A., Barton, DBH., Bailes, E., Nguyen, AN., Jones, M., Quail, MA., Goodhead, I., Sims, S., Smith, F., Blomberg, A., Durbin, R. and Louis, EJ., 2009. Population genomics of domestic and wild yeasts. Nature, v. 458
    Doi: http://doi.org/10.1038/nature07743
  • Moses, AM. and Durbin, R., 2009. Inferring selection on amino acid preference in protein domains. Mol Biol Evol, v. 26
    Doi: http://doi.org/10.1093/molbev/msn286
  • Pruitt, KD., Harrow, J., Harte, RA., Wallin, C., Diekhans, M., Maglott, DR., Searle, S., Farrell, CM., Loveland, JE., Ruef, BJ., Hart, E., Suner, M-M., Landrum, MJ., Aken, B., Ayling, S., Baertsch, R., Fernandez-Banet, J., Cherry, JL., Curwen, V., Dicuccio, M., Kellis, M., Lee, J., Lin, MF., Schuster, M., Shkeda, A., Amid, C., Brown, G., Dukhanina, O., Frankish, A., Hart, J., Maidak, BL., Mudge, J., Murphy, MR., Murphy, T., Rajan, J., Rajput, B., Riddick, LD., Snow, C., Steward, C., Webb, D., Weber, JA., Wilming, L., Wu, W., Birney, E., Haussler, D., Hubbard, T., Ostell, J., Durbin, R. and Lipman, D., 2009. The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res, v. 19
    Doi: http://doi.org/10.1101/gr.080531.108
  • Vilella, AJ., Severin, J., Ureta-Vidal, A., Heng, L., Durbin, R. and Birney, E., 2009. EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates. Genome Res, v. 19
    Doi: http://doi.org/10.1101/gr.073585.107
  • Hubbard, TJP., Aken, BL., Ayling, S., Ballester, B., Beal, K., Bragin, E., Brent, S., Chen, Y., Clapham, P., Clarke, L., Coates, G., Fairley, S., Fitzgerald, S., Fernandez-Banet, J., Gordon, L., Graf, S., Haider, S., Hammond, M., Holland, R., Howe, K., Jenkinson, A., Johnson, N., Kahari, A., Keefe, D., Keenan, S., Kinsella, R., Kokocinski, F., Kulesha, E., Lawson, D., Longden, I., Megy, K., Meidl, P., Overduin, B., Parker, A., Pritchard, B., Rios, D., Schuster, M., Slater, G., Smedley, D., Spooner, W., Spudich, G., Trevanion, S., Vilella, A., Vogel, J., White, S., Wilder, S., Zadissa, A., Birney, E., Cunningham, F., Curwen, V., Durbin, R., Fernandez-Suarez, XM., Herrero, J., Kasprzyk, A., Proctor, G., Smith, J., Searle, S. and Flicek, P., 2009. Ensembl 2009. Nucleic Acids Res, v. 37
    Doi: http://doi.org/10.1093/nar/gkn828
  • 2008

  • Poser, I., Sarov, M., Hutchins, JRA., Hériché, J-K., Toyoda, Y., Pozniakovsky, A., Weigl, D., Nitzsche, A., Hegemann, B., Bird, AW., Pelletier, L., Kittler, R., Hua, S., Naumann, R., Augsburg, M., Sykora, MM., Hofemeister, H., Zhang, Y., Nasmyth, K., White, KP., Dietzel, S., Mechtler, K., Durbin, R., Stewart, AF., Peters, J-M., Buchholz, F. and Hyman, AA., 2008. BAC TransgeneOmics: a high-throughput method for exploration of protein function in mammals. Nat Methods, v. 5
    Doi: http://doi.org/10.1038/nmeth.1199
  • Down, TA., Rakyan, VK., Turner, DJ., Flicek, P., Li, H., Kulesha, E., Gräf, S., Johnson, N., Herrero, J., Tomazou, EM., Thorne, NP., Bäckdahl, L., Herberth, M., Howe, KL., Jackson, DK., Miretti, MM., Marioni, JC., Birney, E., Hubbard, TJP., Durbin, R., Tavaré, S. and Beck, S., 2008. A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis. Nat Biotechnol, v. 26
    Doi: http://doi.org/10.1038/nbt1414
  • Bentley, DR., Balasubramanian, S., Swerdlow, HP., Smith, GP., Milton, J., Brown, CG., Hall, KP., Evers, DJ., Barnes, CL., Bignell, HR., Boutell, JM., Bryant, J., Carter, RJ., Keira Cheetham, R., Cox, AJ., Ellis, DJ., Flatbush, MR., Gormley, NA., Humphray, SJ., Irving, LJ., Karbelashvili, MS., Kirk, SM., Li, H., Liu, X., Maisinger, KS., Murray, LJ., Obradovic, B., Ost, T., Parkinson, ML., Pratt, MR., Rasolonjatovo, IMJ., Reed, MT., Rigatti, R., Rodighiero, C., Ross, MT., Sabot, A., Sankar, SV., Scally, A., Schroth, GP., Smith, ME., Smith, VP., Spiridou, A., Torrance, PE., Tzonev, SS., Vermaas, EH., Walter, K., Wu, X., Zhang, L., Alam, MD., Anastasi, C., Aniebo, IC., Bailey, DMD., Bancarz, IR., Banerjee, S., Barbour, SG., Baybayan, PA., Benoit, VA., Benson, KF., Bevis, C., Black, PJ., Boodhun, A., Brennan, JS., Bridgham, JA., Brown, RC., Brown, AA., Buermann, DH., Bundu, AA., Burrows, JC., Carter, NP., Castillo, N., Chiara E Catenazzi, M., Chang, S., Neil Cooley, R., Crake, NR., Dada, OO., Diakoumakos, KD., Dominguez-Fernandez, B., Earnshaw, DJ., Egbujor, UC., Elmore, DW., Etchin, SS., Ewan, MR., Fedurco, M., Fraser, LJ., Fuentes Fajardo, KV., Scott Furey, W., George, D., Gietzen, KJ., Goddard, CP., Golda, GS., Granieri, PA., Green, DE., Gustafson, DL., Hansen, NF., Harnish, K., Haudenschild, CD., Heyer, NI., Hims, MM., Ho, JT., Horgan, AM., Hoschler, K., Hurwitz, S., Ivanov, DV., Johnson, MQ., James, T., Huw Jones, TA., Kang, G-D., Kerelska, TH., Kersey, AD., Khrebtukova, I., Kindwall, AP., Kingsbury, Z., Kokko-Gonzales, PI., Kumar, A., Laurent, MA., Lawley, CT., Lee, SE., Lee, X., Liao, AK., Loch, JA., Lok, M., Luo, S., Mammen, RM., Martin, JW., McCauley, PG., McNitt, P., Mehta, P., Moon, KW., Mullens, JW., Newington, T., Ning, Z., Ling Ng, B., Novo, SM., O'Neill, MJ., Osborne, MA., Osnowski, A., Ostadan, O., Paraschos, LL., Pickering, L., Pike, AC., Pike, AC., Chris Pinkard, D., Pliskin, DP., Podhasky, J., Quijano, VJ., Raczy, C., Rae, VH., Rawlings, SR., Chiva Rodriguez, A., Roe, PM., Rogers, J., Rogert Bacigalupo, MC., Romanov, N., Romieu, A., Roth, RK., Rourke, NJ., Ruediger, ST., Rusman, E., Sanches-Kuiper, RM., Schenker, MR., Seoane, JM., Shaw, RJ., Shiver, MK., Short, SW., Sizto, NL., Sluis, JP., Smith, MA., Ernest Sohna Sohna, J., Spence, EJ., Stevens, K., Sutton, N., Szajkowski, L., Tregidgo, CL., Turcatti, G., Vandevondele, S., Verhovsky, Y., Virk, SM., Wakelin, S., Walcott, GC., Wang, J., Worsley, GJ., Yan, J., Yau, L., Zuerlein, M., Rogers, J., Mullikin, JC., Hurles, ME., McCooke, NJ., West, JS., Oaks, FL., Lundberg, PL., Klenerman, D., Durbin, R. and Smith, AJ., 2008. Accurate whole human genome sequencing using reversible terminator chemistry. Nature, v. 456
    Doi: 10.1038/nature07517
  • Campbell, PJ., Stephens, PJ., Pleasance, ED., O'Meara, S., Li, H., Santarius, T., Stebbings, LA., Leroy, C., Edkins, S., Hardy, C., Teague, JW., Menzies, A., Goodhead, I., Turner, DJ., Clee, CM., Quail, MA., Cox, A., Brown, C., Durbin, R., Hurles, ME., Edwards, PAW., Bignell, GR., Stratton, MR. and Futreal, PA., 2008. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet, v. 40
    Doi: http://doi.org/10.1038/ng.128
  • Ruan, J., Li, H., Chen, Z., Coghlan, A., Coin, LJM., Guo, Y., Hériché, J-K., Hu, Y., Kristiansen, K., Li, R., Liu, T., Moses, A., Qin, J., Vang, S., Vilella, AJ., Ureta-Vidal, A., Bolund, L., Wang, J. and Durbin, R., 2008. TreeFam: 2008 Update. Nucleic Acids Res, v. 36
    Doi: http://doi.org/10.1093/nar/gkm1005
  • Wang, J., Wang, W., Li, R., Li, Y., Tian, G., Goodman, L., Fan, W., Zhang, J., Li, J., Zhang, J. and others, , 2008. The diploid genome sequence of an Asian individual Nature, v. 456
  • Li, H., Ruan, J. and Durbin, R., 2008. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res, v. 18
    Doi: http://doi.org/10.1101/gr.078212.108
  • Quail, MA., Kozarewa, I., Smith, F., Scally, A., Stephens, PJ., Durbin, R., Swerdlow, H. and Turner, DJ., 2008. A large genome center's improvements to the Illumina sequencing system. Nat Methods, v. 5
    Doi: 10.1038/nmeth.1270
  • Rogers, A., Antoshechkin, I., Bieri, T., Blasiar, D., Bastiani, C., Canaran, P., Chan, J., Chen, WJ., Davis, P., Fernandes, J., Fiedler, TJ., Han, M., Harris, TW., Kishore, R., Lee, R., McKay, S., Müller, H-M., Nakamura, C., Ozersky, P., Petcherski, A., Schindelman, G., Schwarz, EM., Spooner, W., Tuli, MA., Van Auken, K., Wang, D., Wang, X., Williams, G., Yook, K., Durbin, R., Stein, LD., Spieth, J. and Sternberg, PW., 2008. WormBase 2007. Nucleic Acids Res, v. 36
    Doi: http://doi.org/10.1093/nar/gkm975
  • Flicek, P., Aken, BL., Beal, K., Ballester, B., Caccamo, M., Chen, Y., Clarke, L., Coates, G., Cunningham, F., Cutts, T., Down, T., Dyer, SC., Eyre, T., Fitzgerald, S., Fernandez-Banet, J., Gräf, S., Haider, S., Hammond, M., Holland, R., Howe, KL., Howe, K., Johnson, N., Jenkinson, A., Kähäri, A., Keefe, D., Kokocinski, F., Kulesha, E., Lawson, D., Longden, I., Megy, K., Meidl, P., Overduin, B., Parker, A., Pritchard, B., Prlic, A., Rice, S., Rios, D., Schuster, M., Sealy, I., Slater, G., Smedley, D., Spudich, G., Trevanion, S., Vilella, AJ., Vogel, J., White, S., Wood, M., Birney, E., Cox, T., Curwen, V., Durbin, R., Fernandez-Suarez, XM., Herrero, J., Hubbard, TJP., Kasprzyk, A., Proctor, G., Smith, J., Ureta-Vidal, A. and Searle, S., 2008. Ensembl 2008. Nucleic Acids Res, v. 36
    Doi: http://doi.org/10.1093/nar/gkm988
  • 2007

  • Hubbard, TJP., Aken, BL., Beal, K., Ballester, B., Caccamo, M., Chen, Y., Clarke, L., Coates, G., Cunningham, F., Cutts, T., Down, T., Dyer, SC., Fitzgerald, S., Fernandez-Banet, J., Graf, S., Haider, S., Hammond, M., Herrero, J., Holland, R., Howe, K., Howe, K., Johnson, N., Kahari, A., Keefe, D., Kokocinski, F., Kulesha, E., Lawson, D., Longden, I., Melsopp, C., Megy, K., Meidl, P., Ouverdin, B., Parker, A., Prlic, A., Rice, S., Rios, D., Schuster, M., Sealy, I., Severin, J., Slater, G., Smedley, D., Spudich, G., Trevanion, S., Vilella, A., Vogel, J., White, S., Wood, M., Cox, T., Curwen, V., Durbin, R., Fernandez-Suarez, XM., Flicek, P., Kasprzyk, A., Proctor, G., Searle, S., Smith, J., Ureta-Vidal, A. and Birney, E., 2007. Ensembl 2007. Nucleic Acids Res, v. 35
    Doi: http://doi.org/10.1093/nar/gkl996
  • Moses, AM., Liku, ME., Li, JJ. and Durbin, R., 2007. Regulatory evolution in proteins by turnover and lineage-specific changes of cyclin-dependent kinase consensus sites. Proc Natl Acad Sci U S A, v. 104
    Doi: http://doi.org/10.1073/pnas.0700997104
  • Jiménez, JL., Hegemann, B., Hutchins, JRA., Peters, J-M. and Durbin, R., 2007. A systematic comparative and structural analysis of protein phosphorylation sites based on the mtcPTM database. Genome Biol, v. 8
    Doi: http://doi.org/10.1186/gb-2007-8-5-r90
  • Moses, AM., Hériché, J-K. and Durbin, R., 2007. Clustering of phosphorylation site recognition motifs can be exploited to predict the targets of cyclin-dependent kinase. Genome Biol, v. 8
    Doi: http://doi.org/10.1186/gb-2007-8-2-r23
  • Coghlan, A. and Durbin, R., 2007. Genomix: a method for combining gene-finders' predictions, which uses evolutionary conservation of sequence and intron-exon structure. Bioinformatics, v. 23
    Doi: http://doi.org/10.1093/bioinformatics/btm133
  • Bieri, T., Blasiar, D., Ozersky, P., Antoshechkin, I., Bastiani, C., Canaran, P., Chan, J., Chen, N., Chen, WJ., Davis, P., Fiedler, TJ., Girard, L., Han, M., Harris, TW., Kishore, R., Lee, R., McKay, S., Müller, H-M., Nakamura, C., Petcherski, A., Rangarajan, A., Rogers, A., Schindelman, G., Schwarz, EM., Spooner, W., Tuli, MA., Van Auken, K., Wang, D., Wang, X., Williams, G., Durbin, R., Stein, LD., Sternberg, PW. and Spieth, J., 2007. WormBase: new content and better access. Nucleic Acids Res, v. 35
    Doi: http://doi.org/10.1093/nar/gkl818
  • 2006

  • Carter, D. and Durbin, R., 2006. Vertebrate gene finding from multiple-species alignments using a two-level strategy. Genome Biol, v. 7 Suppl 1
    Doi: http://doi.org/10.1186/gb-2006-7-s1-s6
  • Finn, RD., Mistry, J., Schuster-Böckler, B., Griffiths-Jones, S., Hollich, V., Lassmann, T., Moxon, S., Marshall, M., Khanna, A., Durbin, R., Eddy, SR., Sonnhammer, ELL. and Bateman, A., 2006. Pfam: clans, web tools and services. Nucleic Acids Res, v. 34
    Doi: http://doi.org/10.1093/nar/gkj149
  • Gregory, SG., Barlow, KF., Mclay, KE., Kaul, R., Swarbreck, D., Dunham, A., Scott, CE., Howe, KL., Woodfine, K., Spencer, CCA., Jones, MC., Gillson, C., Searle, S., Zhou, Y., Kokocinski, F., McDonald, L., Evans, R., Phillips, K., Atkinson, A., Cooper, R., Jones, C., Hall, RE., Andrews, TD., Lloyd, C., Ainscough, R., Almeida, JP., Ambrose, KD., Anderson, F., Andrew, RW., Ashwell, RIS., Aubin, K., Babbage, AK., Bagguley, CL., Bailey, J., Banerjee, R., Beasley, H., Bethel, G., Bird, CP., Bray-Allen, S., Brown, JY., Brown, AJ., Bryant, SP., Buckley, D., Burford, DC., Burrill, WDH., Burton, J., Bye, J., Carder, C., Chapman, JC., Clark, SY., Clarke, G., Clee, C., Clegg, SM., Cobley, V., Collier, RE., Corby, N., Coville, GJ., Davies, J., Deadman, R., Dhami, P., Dovey, O., Dunn, M., Earthrowl, M., Ellington, AG., Errington, H., Faulkner, LM., Frankish, A., Frankland, J., French, L., Garner, P., Garnett, J., Gay, L., Ghori, MRJ., Gibson, R., Gilby, LM., Gillett, W., Glithero, RJ., Grafham, DV., Gribble, SM., Griffiths, C., Griffiths-Jones, S., Grocock, R., Hammond, S., Harrison, ESI., Hart, E., Haugen, E., Heath, PD., Holmes, S., Holt, K., Howden, PJ., Hunt, AR., Hunt, SE., Hunter, G., Isherwood, J., James, R., Johnson, C., Johnson, D., Joy, A., Kay, M., Kershaw, JK., Kibukawa, M., Kimberley, AM., King, A., Knights, AJ., Lad, H., Laird, G., Langford, CF., Lawlor, S., Leongamornlert, DA., Lloyd, DM., Loveland, J., Lovell, J., Lush, MJ., Lyne, R., Martin, S., Mashreghi-Mohammadi, M., Matthews, L., Matthews, NSW., McLaren, S., Milne, S., Mistry, S., Moore, MJF., Nickerson, T., O'Dell, CN., Oliver, K., Palmeiri, A., Palmer, SA., Pandian, RD., Parker, A., Patel, D., Pearce, AV., Peck, AI., Pelan, S., Phelps, K., Phillimore, BJ., Plumb, R., Porter, KM., Prigmore, E., Rajan, J., Raymond, C., Rouse, G., Saenphimmachak, C., Sehra, HK., Sheridan, E., Shownkeen, R., Sims, S., Skuce, CD., Smith, M., Steward, C., Subramanian, S., Sycamore, N., Tracey, A., Tromans, A., Van Helmond, Z., Wallis, MWJM., White, S., Whitehead, SL., Wilkinson, JE., Willey, DL., Williams, H., Wilming, L., Wray, PW., Wu, Z., Coulson, A., Vaudin, M., Sulston, JE., Durbin, R., Hubbard, T., Wooster, R., Dunham, I., Carter, NP., McVean, G., Ross, MT., Harrow, J., Olson, MV., Beck, S., Rogers, J. and Bentley, DR., 2006. The DNA sequence and biological annotation of human chromosome 1 (vol 441, pg 315, 2006) NATURE, v. 443
    Doi: http://doi.org/10.1038/nature05152
  • Birney, E., Andrews, D., Caccamo, M., Chen, Y., Clarke, L., Coates, G., Cox, T., Cunningham, F., Curwen, V., Cutts, T., Down, T., Durbin, R., Fernandez-Suarez, XM., Flicek, P., Gräf, S., Hammond, M., Herrero, J., Howe, K., Iyer, V., Jekosch, K., Kähäri, A., Kasprzyk, A., Keefe, D., Kokocinski, F., Kulesha, E., London, D., Longden, I., Melsopp, C., Meidl, P., Overduin, B., Parker, A., Proctor, G., Prlic, A., Rae, M., Rios, D., Redmond, S., Schuster, M., Sealy, I., Searle, S., Severin, J., Slater, G., Smedley, D., Smith, J., Stabenau, A., Stalker, J., Trevanion, S., Ureta-Vidal, A., Vogel, J., White, S., Woodwark, C. and Hubbard, TJP., 2006. Ensembl 2006. Nucleic Acids Res, v. 34
    Doi: http://doi.org/10.1093/nar/gkj133
  • Gregory, SG., Barlow, KF., McLay, KE., Kaul, R., Swarbreck, D., Dunham, A., Scott, CE., Howe, KL., Woodfine, K., Spencer, CCA., Jones, MC., Gillson, C., Searle, S., Zhou, Y., Kokocinski, F., McDonald, L., Evans, R., Phillips, K., Atkinson, A., Cooper, R., Jones, C., Hall, RE., Andrews, TD., Lloyd, C., Ainscough, R., Almeida, JP., Ambrose, KD., Anderson, F., Andrew, RW., Ashwell, RIS., Aubin, K., Babbage, AK., Bagguley, CL., Bailey, J., Beasley, H., Bethel, G., Bird, CP., Bray-Allen, S., Brown, JY., Brown, AJ., Buckley, D., Burton, J., Bye, J., Carder, C., Chapman, JC., Clark, SY., Clarke, G., Clee, C., Cobley, V., Collier, RE., Corby, N., Coville, GJ., Davies, J., Deadman, R., Dunn, M., Earthrowl, M., Ellington, AG., Errington, H., Frankish, A., Frankland, J., French, L., Garner, P., Garnett, J., Gay, L., Ghori, MRJ., Gibson, R., Gilby, LM., Gillett, W., Glithero, RJ., Grafham, DV., Griffiths, C., Griffiths-Jones, S., Grocock, R., Hammond, S., Harrison, ESI., Hart, E., Haugen, E., Heath, PD., Holmes, S., Holt, K., Howden, PJ., Hunt, AR., Hunt, SE., Hunter, G., Isherwood, J., James, R., Johnson, C., Johnson, D., Joy, A., Kay, M., Kershaw, JK., Kibukawa, M., Kimberley, AM., King, A., Knights, AJ., Lad, H., Laird, G., Lawlor, S., Leongamornlert, DA., Lloyd, DM., Loveland, J., Lovell, J., Lush, MJ., Lyne, R., Martin, S., Mashreghi-Mohammadi, M., Matthews, L., Matthews, NSW., McLaren, S., Milne, S., Mistry, S., Moore, MJF., Nickerson, T., O'Dell, CN., Oliver, K., Palmeiri, A., Palmer, SA., Parker, A., Patel, D., Pearce, AV., Peck, AI., Pelan, S., Phelps, K., Phillimore, BJ., Plumb, R., Rajan, J., Raymond, C., Rouse, G., Saenphimmachak, C., Sehra, HK., Sheridan, E., Shownkeen, R., Sims, S., Skuce, CD., Smith, M., Steward, C., Subramanian, S., Sycamore, N., Tracey, A., Tromans, A., Van Helmond, Z., Wall, M., Wallis, JM., White, S., Whitehead, SL., Wilkinson, JE., Willey, DL., Williams, H., Wilming, L., Wray, PW., Wu, Z., Coulson, A., Vaudin, M., Sulston, JE., Durbin, R., Hubbard, T., Wooster, R., Dunham, I., Carter, NP., McVean, G., Ross, MT., Harrow, J., Olson, MV., Beck, S., Rogers, J., Bentley, DR., Banerjee, R., Bryant, SP., Burford, DC., Burrill, WDH., Clegg, SM., Dhami, P., Dovey, O., Faulkner, LM., Gribble, SM., Langford, CF., Pandian, RD., Porter, KM. and Prigmore, E., 2006. The DNA sequence and biological annotation of human chromosome 1. Nature, v. 441
    Doi: http://doi.org/10.1038/nature04727
  • Jiménez, JL. and Durbin, R., 2006. [X]uniqMAP: unique gene sequence regions in the human and mouse genomes. BMC Genomics, v. 7
    Doi: http://doi.org/10.1186/1471-2164-7-249
  • Hajarnavis, A. and Durbin, R., 2006. A conserved sequence motif in 3' untranslated regions of ribosomal protein mRNAs in nematodes. RNA, v. 12
    Doi: http://doi.org/10.1261/rna.51306
  • Minichiello, MJ. and Durbin, R., 2006. Mapping trait loci by use of inferred ancestral recombination graphs. Am J Hum Genet, v. 79
    Doi: http://doi.org/10.1086/508901
  • Li, H., Coghlan, A., Ruan, J., Coin, LJ., Hériché, J-K., Osmotherly, L., Li, R., Liu, T., Zhang, Z., Bolund, L., Wong, GK-S., Zheng, W., Dehal, P., Wang, J. and Durbin, R., 2006. TreeFam: a curated database of phylogenetic trees of animal gene families. Nucleic Acids Res, v. 34
    Doi: http://doi.org/10.1093/nar/gkj118
  • Schwarz, EM., Antoshechkin, I., Bastiani, C., Bieri, T., Blasiar, D., Canaran, P., Chan, J., Chen, N., Chen, WJ., Davis, P., Fiedler, TJ., Girard, L., Harris, TW., Kenny, EE., Kishore, R., Lawson, D., Lee, R., Müller, H-M., Nakamura, C., Ozersky, P., Petcherski, A., Rogers, A., Spooner, W., Tuli, MA., Van Auken, K., Wang, D., Durbin, R., Spieth, J., Stein, LD. and Sternberg, PW., 2006. WormBase: better software, richer content. Nucleic Acids Res, v. 34
    Doi: http://doi.org/10.1093/nar/gkj061
  • 2005

  • Mulder, NJ., Apweiler, R., Attwood, TK., Bairoch, A., Bateman, A., Binns, D., Bradley, P., Bork, P., Bucher, P., Cerutti, L., Copley, R., Courcelle, E., Das, U., Durbin, R., Fleischmann, W., Gough, J., Haft, D., Harte, N., Hulo, N., Kahn, D., Kanapin, A., Krestyaninova, M., Lonsdale, D., Lopez, R., Letunic, I., Madera, M., Maslen, J., McDowall, J., Mitchell, A., Nikolskaya, AN., Orchard, S., Pagni, M., Ponting, CP., Quevillon, E., Selengut, J., Sigrist, CJA., Silventoinen, V., Studholme, DJ., Vaughan, R. and Wu, CH., 2005. InterPro, progress and status in 2005. Nucleic Acids Res, v. 33
    Doi: http://doi.org/10.1093/nar/gki106
  • Chen, N., Harris, TW., Antoshechkin, I., Bastiani, C., Bieri, T., Blasiar, D., Bradnam, K., Canaran, P., Chan, J., Chen, C-K., Chen, WJ., Cunningham, F., Davis, P., Kenny, E., Kishore, R., Lawson, D., Lee, R., Muller, H-M., Nakamura, C., Pai, S., Ozersky, P., Petcherski, A., Rogers, A., Sabo, A., Schwarz, EM., Van Auken, K., Wang, Q., Durbin, R., Spieth, J., Sternberg, PW. and Stein, LD., 2005. WormBase: a comprehensive data resource for Caenorhabditis biology and genomics. Nucleic Acids Res, v. 33
    Doi: http://doi.org/10.1093/nar/gki066
  • Eilbeck, K., Lewis, SE., Mungall, CJ., Yandell, M., Stein, L., Durbin, R. and Ashburner, M., 2005. The Sequence Ontology: a tool for the unification of genome annotations. Genome Biol, v. 6
  • Hubbard, T., Andrews, D., Caccamo, M., Cameron, G., Chen, Y., Clamp, M., Clarke, L., Coates, G., Cox, T., Cunningham, F., Curwen, V., Cutts, T., Down, T., Durbin, R., Fernandez-Suarez, XM., Gilbert, J., Hammond, M., Herrero, J., Hotz, H., Howe, K., Iyer, V., Jekosch, K., Kahari, A., Kasprzyk, A., Keefe, D., Keenan, S., Kokocinsci, F., London, D., Longden, I., McVicker, G., Melsopp, C., Meidl, P., Potter, S., Proctor, G., Rae, M., Rios, D., Schuster, M., Searle, S., Severin, J., Slater, G., Smedley, D., Smith, J., Spooner, W., Stabenau, A., Stalker, J., Storey, R., Trevanion, S., Ureta-Vidal, A., Vogel, J., White, S., Woodwark, C. and Birney, E., 2005. Ensembl 2005. Nucleic Acids Res, v. 33
    Doi: http://doi.org/10.1093/nar/gki138
  • Ross, MT., Grafham, DV., Coffey, AJ., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, GR., Burrows, C., Bird, CP., Frankish, A., Lovell, FL., Howe, KL., Ashurst, JL., Fulton, RS., Sudbrak, R., Wen, G., Jones, MC., Hurles, ME., Andrews, TD., Scott, CE., Searle, S., Ramser, J., Whittaker, A., Deadman, R., Carter, NP., Hunt, SE., Chen, R., Cree, A., Gunaratne, P., Havlak, P., Hodgson, A., Metzker, ML., Richards, S., Scott, G., Steffen, D., Sodergren, E., Wheeler, DA., Worley, KC., Ainscough, R., Ambrose, KD., Ansari-Lari, MA., Aradhya, S., Ashwell, RIS., Babbage, AK., Bagguley, CL., Ballabio, A., Banerjee, R., Barker, GE., Barlow, KF., Barrett, IP., Bates, KN., Beare, DM., Beasley, H., Beasley, O., Beck, A., Bethel, G., Blechschmidt, K., Brady, N., Bray-Allen, S., Bridgeman, AM., Brown, AJ., Brown, MJ., Bonnin, D., Bruford, EA., Buhay, C., Burch, P., Burford, D., Burgess, J., Burrill, W., Burton, J., Bye, JM., Carder, C., Carrel, L., Chako, J., Chapman, JC., Chavez, D., Chen, E., Chen, G., Chen, Y., Chen, Z., Chinault, C., Ciccodicola, A., Clark, SY., Clarke, G., Clee, CM., Clegg, S., Clerc-Blankenburg, K., Clifford, K., Cobley, V., Cole, CG., Conquer, JS., Corby, N., Connor, RE., David, R., Davies, J., Davis, C., Davis, J., Delgado, O., Deshazo, D., Dhami, P., Ding, Y., Dinh, H., Dodsworth, S., Draper, H., Dugan-Rocha, S., Dunham, A., Dunn, M., Durbin, KJ., Dutta, I., Eades, T., Ellwood, M., Emery-Cohen, A., Errington, H., Evans, KL., Faulkner, L., Francis, F., Frankland, J., Fraser, AE., Galgoczy, P., Gilbert, J., Gill, R., Glöckner, G., Gregory, SG., Gribble, S., Griffiths, C., Grocock, R., Gu, Y., Gwilliam, R., Hamilton, C., Hart, EA., Hawes, A., Heath, PD., Heitmann, K., Hennig, S., Hernandez, J., Hinzmann, B., Ho, S., Hoffs, M., Howden, PJ., Huckle, EJ., Hume, J., Hunt, PJ., Hunt, AR., Isherwood, J., Jacob, L., Johnson, D., Jones, S., de Jong, PJ., Joseph, SS., Keenan, S., Kelly, S., Kershaw, JK., Khan, Z., Kioschis, P., Klages, S., Knights, AJ., Kosiura, A., Kovar-Smith, C., Laird, GK., Langford, C., Lawlor, S., Leversha, M., Lewis, L., Liu, W., Lloyd, C., Lloyd, DM., Loulseged, H., Loveland, JE., Lovell, JD., Lozado, R., Lu, J., Lyne, R., Ma, J., Maheshwari, M., Matthews, LH., McDowall, J., McLaren, S., McMurray, A., Meidl, P., Meitinger, T., Milne, S., Miner, G., Mistry, SL., Morgan, M., Morris, S., Müller, I., Mullikin, JC., Nguyen, N., Nordsiek, G., Nyakatura, G., O'Dell, CN., Okwuonu, G., Palmer, S., Pandian, R., Parker, D., Parrish, J., Pasternak, S., Patel, D., Pearce, AV., Pearson, DM., Pelan, SE., Perez, L., Porter, KM., Ramsey, Y., Reichwald, K., Rhodes, S., Ridler, KA., Schlessinger, D., Schueler, MG., Sehra, HK., Shaw-Smith, C., Shen, H., Sheridan, EM., Shownkeen, R., Skuce, CD., Smith, ML., Sotheran, EC., Steingruber, HE., Steward, CA., Storey, R., Swann, RM., Swarbreck, D., Tabor, PE., Taudien, S., Taylor, T., Teague, B., Thomas, K., Thorpe, A., Timms, K., Tracey, A., Trevanion, S., Tromans, AC., d'Urso, M., Verduzco, D., Villasana, D., Waldron, L., Wall, M., Wang, Q., Warren, J., Warry, GL., Wei, X., West, A., Whitehead, SL., Whiteley, MN., Wilkinson, JE., Willey, DL., Williams, G., Williams, L., Williamson, A., Williamson, H., Wilming, L., Woodmansey, RL., Wray, PW., Yen, J., Zhang, J., Zhou, J., Zoghbi, H., Zorilla, S., Buck, D., Reinhardt, R., Poustka, A., Rosenthal, A., Lehrach, H., Meindl, A., Minx, PJ., Hillier, LW., Willard, HF., Wilson, RK., Waterston, RH., Rice, CM., Vaudin, M., Coulson, A., Nelson, DL., Weinstock, G., Sulston, JE., Durbin, R., Hubbard, T., Gibbs, RA., Beck, S., Rogers, J. and Bentley, DR., 2005. The DNA sequence of the human X chromosome. Nature, v. 434
    Doi: http://doi.org/10.1038/nature03440
  • 2004

  • Birney, E., Clamp, M. and Durbin, R., 2004. GeneWise and Genomewise. Genome Res, v. 14
    Doi: http://doi.org/10.1101/gr.1865504
  • Coin, L., Bateman, A. and Durbin, R., 2004. Enhanced protein domain discovery using taxonomy. BMC Bioinformatics, v. 5
    Doi: http://doi.org/10.1186/1471-2105-5-56
  • Harris, TW., Chen, N., Cunningham, F., Tello-Ruiz, M., Antoshechkin, I., Bastiani, C., Bieri, T., Blasiar, D., Bradnam, K., Chan, J., Chen, C-K., Chen, WJ., Davis, P., Kenny, E., Kishore, R., Lawson, D., Lee, R., Muller, H-M., Nakamura, C., Ozersky, P., Petcherski, A., Rogers, A., Sabo, A., Schwarz, EM., Van Auken, K., Wang, Q., Durbin, R., Spieth, J., Sternberg, PW. and Stein, LD., 2004. WormBase: a multi-species resource for nematode biology and genomics. Nucleic Acids Res, v. 32
    Doi: http://doi.org/10.1093/nar/gkh066
  • Birney, E., Andrews, D., Bevan, P., Caccamo, M., Cameron, G., Chen, Y., Clarke, L., Coates, G., Cox, T., Cuff, J., Curwen, V., Cutts, T., Down, T., Durbin, R., Eyras, E., Fernandez-Suarez, XM., Gane, P., Gibbins, B., Gilbert, J., Hammond, M., Hotz, H., Iyer, V., Kahari, A., Jekosch, K., Kasprzyk, A., Keefe, D., Keenan, S., Lehvaslaiho, H., McVicker, G., Melsopp, C., Meidl, P., Mongin, E., Pettett, R., Potter, S., Proctor, G., Rae, M., Searle, S., Slater, G., Smedley, D., Smith, J., Spooner, W., Stabenau, A., Stalker, J., Storey, R., Ureta-Vidal, A., Woodwark, C., Clamp, M. and Hubbard, T., 2004. Ensembl 2004. Nucleic Acids Res, v. 32
    Doi: http://doi.org/10.1093/nar/gkh038
  • Coin, L. and Durbin, R., 2004. Improved techniques for the identification of pseudogenes. Bioinformatics, v. 20 Suppl 1
    Doi: http://doi.org/10.1093/bioinformatics/bth942
  • Humphray, SJ., Oliver, K., Hunt, AR., Plumb, RW., Loveland, JE., Howe, KL., Andrews, TD., Searle, S., Hunt, SE., Scott, CE., Jones, MC., Ainscough, R., Almeida, JP., Ambrose, KD., Ashwell, RIS., Babbage, AK., Babbage, S., Bagguley, CL., Bailey, J., Banerjee, R., Barker, DJ., Barlow, KF., Bates, K., Beasley, H., Beasley, O., Bird, CP., Bray-Allen, S., Brown, AJ., Brown, JY., Burford, D., Burrill, W., Burton, J., Carder, C., Carter, NP., Chapman, JC., Chen, Y., Clarke, G., Clark, SY., Clee, CM., Clegg, S., Collier, RE., Corby, N., Crosier, M., Cummings, AT., Davies, J., Dhami, P., Dunn, M., Dutta, I., Dyer, LW., Earthrowl, ME., Faulkner, L., Fleming, CJ., Frankish, A., Frankland, JA., French, L., Fricker, DG., Garner, P., Garnett, J., Ghori, J., Gilbert, JGR., Glison, C., Grafham, DV., Gribble, S., Griffiths, C., Griffiths-Jones, S., Grocock, R., Guy, J., Hall, RE., Hammond, S., Harley, JL., Harrison, ESI., Hart, EA., Heath, PD., Henderson, CD., Hopkins, BL., Howard, PJ., Howden, PJ., Huckle, E., Johnson, C., Johnson, D., Joy, AA., Kay, M., Keenan, S., Kershaw, JK., Kimberley, AM., King, A., Knights, A., Laird, GK., Langford, C., Lawlor, S., Leongamornlert, DA., Leversha, M., Lloyd, C., Lloyd, DM., Lovell, J., Martin, S., Mashreghi-Mohammadi, M., Matthews, L., McLaren, S., McLay, KE., McMurray, A., Milne, S., Nickerson, T., Nisbett, J., Nordsiek, G., Pearce, AV., Peck, AI., Porter, KM., Pandian, R., Pelan, S., Phillimore, B., Povey, S., Ramsey, Y., Rand, V., Scharfe, M., Sehra, HK., Shownkeen, R., Sims, SK., Skuce, CD., Smith, M., Steward, CA., Swarbreck, D., Sycamore, N., Tester, J., Thorpe, A., Tracey, A., Tromans, A., Thomas, DW., Wall, M., Wallis, JM., West, AP., Whitehead, SL., Willey, DL., Williams, SA., Wilming, L., Wray, PW., Young, L., Ashurst, JL., Coulson, A., Blöcker, H., Durbin, R., Sulston, JE., Hubbard, T., Jackson, MJ., Bentley, DR., Beck, S., Rogers, J. and Dunham, I., 2004. DNA sequence and analysis of human chromosome 9. Nature, v. 429
    Doi: http://doi.org/10.1038/nature02465
  • Dunham, A., Matthews, LH., Burton, J., Ashurst, JL., Howe, KL., Ashcroft, KJ., Beare, DM., Burford, DC., Hunt, SE., Griffiths-Jones, S., Jones, MC., Keenan, SJ., Oliver, K., Scott, CE., Ainscough, R., Almeida, JP., Ambrose, KD., Andrews, DT., Ashwell, RIS., Babbage, AK., Bagguley, CL., Bailey, J., Bannerjee, R., Barlow, KF., Bates, K., Beasley, H., Bird, CP., Bray-Allen, S., Brown, AJ., Brown, JY., Burrill, W., Carder, C., Carter, NP., Chapman, JC., Clamp, ME., Clark, SY., Clarke, G., Clee, CM., Clegg, SCM., Cobley, V., Collins, JE., Corby, N., Coville, GJ., Deloukas, P., Dhami, P., Dunham, I., Dunn, M., Earthrowl, ME., Ellington, AG., Faulkner, L., Frankish, AG., Frankland, J., French, L., Garner, P., Garnett, J., Gilbert, JGR., Gilson, CJ., Ghori, J., Grafham, DV., Gribble, SM., Griffiths, C., Hall, RE., Hammond, S., Harley, JL., Hart, EA., Heath, PD., Howden, PJ., Huckle, EJ., Hunt, PJ., Hunt, AR., Johnson, C., Johnson, D., Kay, M., Kimberley, AM., King, A., Laird, GK., Langford, CJ., Lawlor, S., Leongamornlert, DA., Lloyd, DM., Lloyd, C., Loveland, JE., Lovell, J., Martin, S., Mashreghi-Mohammadi, M., McLaren, SJ., McMurray, A., Milne, S., Moore, MJF., Nickerson, T., Palmer, SA., Pearce, AV., Peck, AI., Pelan, S., Phillimore, B., Porter, KM., Rice, CM., Searle, S., Sehra, HK., Shownkeen, R., Skuce, CD., Smith, M., Steward, CA., Sycamore, N., Tester, J., Thomas, DW., Tracey, A., Tromans, A., Tubby, B., Wall, M., Wallis, JM., West, AP., Whitehead, SL., Willey, DL., Wilming, L., Wray, PW., Wright, MW., Young, L., Coulson, A., Durbin, R., Hubbard, T., Sulston, JE., Beck, S., Bentley, DR., Rogers, J. and Ross, MT., 2004. The DNA sequence and analysis of human chromosome 13. Nature, v. 428
    Doi: http://doi.org/10.1038/nature02379
  • Birney, E., Andrews, TD., Bevan, P., Caccamo, M., Chen, Y., Clarke, L., Coates, G., Cuff, J., Curwen, V., Cutts, T., Down, T., Eyras, E., Fernandez-Suarez, XM., Gane, P., Gibbins, B., Gilbert, J., Hammond, M., Hotz, H-R., Iyer, V., Jekosch, K., Kahari, A., Kasprzyk, A., Keefe, D., Keenan, S., Lehvaslaiho, H., McVicker, G., Melsopp, C., Meidl, P., Mongin, E., Pettett, R., Potter, S., Proctor, G., Rae, M., Searle, S., Slater, G., Smedley, D., Smith, J., Spooner, W., Stabenau, A., Stalker, J., Storey, R., Ureta-Vidal, A., Woodwark, KC., Cameron, G., Durbin, R., Cox, A., Hubbard, T. and Clamp, M., 2004. An overview of Ensembl. Genome Res, v. 14
    Doi: http://doi.org/10.1101/gr.1860604
  • Bateman, A., Coin, L., Durbin, R., Finn, RD., Hollich, V., Griffiths-Jones, S., Khanna, A., Marshall, M., Moxon, S., Sonnhammer, ELL., Studholme, DJ., Yeats, C. and Eddy, SR., 2004. The Pfam protein families database. Nucleic Acids Res, v. 32
    Doi: http://doi.org/10.1093/nar/gkh121
  • Deloukas, P., Earthrowl, ME., Grafham, DV., Rubenfield, M., French, L., Steward, CA., Sims, SK., Jones, MC., Searle, S., Scott, C., Howe, K., Hunt, SE., Andrews, TD., Gilbert, JGR., Swarbreck, D., Ashurst, JL., Taylor, A., Battles, J., Bird, CP., Ainscough, R., Almeida, JP., Ashwell, RIS., Ambrose, KD., Babbage, AK., Bagguley, CL., Bailey, J., Banerjee, R., Bates, K., Beasley, H., Bray-Allen, S., Brown, AJ., Brown, JY., Burford, DC., Burrill, W., Burton, J., Cahill, P., Camire, D., Carter, NP., Chapman, JC., Clark, SY., Clarke, G., Clee, CM., Clegg, S., Corby, N., Coulson, A., Dhami, P., Dutta, I., Dunn, M., Faulkner, L., Frankish, A., Frankland, JA., Garner, P., Garnett, J., Gribble, S., Griffiths, C., Grocock, R., Gustafson, E., Hammond, S., Harley, JL., Hart, E., Heath, PD., Ho, TP., Hopkins, B., Horne, J., Howden, PJ., Huckle, E., Hynds, C., Johnson, C., Johnson, D., Kana, A., Kay, M., Kimberley, AM., Kershaw, JK., Kokkinaki, M., Laird, GK., Lawlor, S., Lee, HM., Leongamornlert, DA., Laird, G., Lloyd, C., Lloyd, DM., Loveland, J., Lovell, J., McLaren, S., McLay, KE., McMurray, A., Mashreghi-Mohammadi, M., Matthews, L., Milne, S., Nickerson, T., Nguyen, M., Overton-Larty, E., Palmer, SA., Pearce, AV., Peck, AI., Pelan, S., Phillimore, B., Porter, K., Rice, CM., Rogosin, A., Ross, MT., Sarafidou, T., Sehra, HK., Shownkeen, R., Skuce, CD., Smith, M., Standring, L., Sycamore, N., Tester, J., Thorpe, A., Torcasso, W., Tracey, A., Tromans, A., Tsolas, J., Wall, M., Walsh, J., Wang, H., Weinstock, K., West, AP., Willey, DL., Whitehead, SL., Wilming, L., Wray, PW., Young, L., Chen, Y., Lovering, RC., Moschonas, NK., Siebert, R., Fechtel, K., Bentley, D., Durbin, R., Hubbard, T., Doucette-Stamm, L., Beck, S., Smith, DR. and Rogers, J., 2004. The DNA sequence and comparative analysis of human chromosome 10. Nature, v. 429
    Doi: http://doi.org/10.1038/nature02462
  • Gibbs, RA., Weinstock, GM., Metzker, ML., Muzny, DM., Sodergren, EJ., Scherer, S., Scott, G., Steffen, D., Worley, KC., Burch, PE., Okwuonu, G., Hines, S., Lewis, L., DeRamo, C., Delgado, O., Dugan-Rocha, S., Miner, G., Morgan, M., Hawes, A., Gill, R., Celera, , Holt, RA., Adams, MD., Amanatides, PG., Baden-Tillson, H., Barnstead, M., Chin, S., Evans, CA., Ferriera, S., Fosler, C., Glodek, A., Gu, Z., Jennings, D., Kraft, CL., Nguyen, T., Pfannkoch, CM., Sitter, C., Sutton, GG., Venter, JC., Woodage, T., Smith, D., Lee, H-M., Gustafson, E., Cahill, P., Kana, A., Doucette-Stamm, L., Weinstock, K., Fechtel, K., Weiss, RB., Dunn, DM., Green, ED., Blakesley, RW., Bouffard, GG., De Jong, PJ., Osoegawa, K., Zhu, B., Marra, M., Schein, J., Bosdet, I., Fjell, C., Jones, S., Krzywinski, M., Mathewson, C., Siddiqui, A., Wye, N., McPherson, J., Zhao, S., Fraser, CM., Shetty, J., Shatsman, S., Geer, K., Chen, Y., Abramzon, S., Nierman, WC., Havlak, PH., Chen, R., Durbin, KJ., Egan, A., Ren, Y., Song, X-Z., Li, B., Liu, Y., Qin, X., Cawley, S., Worley, KC., Cooney, AJ., D'Souza, LM., Martin, K., Wu, JQ., Gonzalez-Garay, ML., Jackson, AR., Kalafus, KJ., McLeod, MP., Milosavljevic, A., Virk, D., Volkov, A., Wheeler, DA., Zhang, Z., Bailey, JA., Eichler, EE., Tuzun, E., Birney, E., Mongin, E., Ureta-Vidal, A., Woodwark, C., Zdobnov, E., Bork, P., Suyama, M., Torrents, D., Alexandersson, M., Trask, BJ., Young, JM., Huang, H., Wang, H., Xing, H., Daniels, S., Gietzen, D., Schmidt, J., Stevens, K., Vitt, U., Wingrove, J., Camara, F., Mar Albà, M., Abril, JF., Guigo, R., Smit, A., Dubchak, I., Rubin, EM., Couronne, O., Poliakov, A., Hübner, N., Ganten, D., Goesele, C., Hummel, O., Kreitler, T., Lee, Y-A., Monti, J., Schulz, H., Zimdahl, H., Himmelbauer, H., Lehrach, H., Jacob, HJ., Bromberg, S., Gullings-Handley, J., Jensen-Seaman, MI., Kwitek, AE., Lazar, J., Pasko, D., Tonellato, PJ., Twigger, S., Ponting, CP., Duarte, JM., Rice, S., Goodstadt, L., Beatson, SA., Emes, RD., Winter, EE., Webber, C., Brandt, P., Nyakatura, G., Adetobi, M., Chiaromonte, F., Elnitski, L., Eswara, P., Hardison, RC., Hou, M., Kolbe, D., Makova, K., Miller, W., Nekrutenko, A., Riemer, C., Schwartz, S., Taylor, J., Yang, S., Zhang, Y., Lindpaintner, K., Andrews, TD., Caccamo, M., Clamp, M., Clarke, L., Curwen, V., Durbin, R., Eyras, E., Searle, SM., Cooper, GM., Batzoglou, S., Brudno, M., Sidow, A., Stone, EA., Venter, JC., Payseur, BA., Bourque, G., López-Otín, C., Puente, XS., Chakrabarti, K., Chatterji, S., Dewey, C., Pachter, L., Bray, N., Yap, VB., Caspi, A., Tesler, G., Pevzner, PA., Haussler, D., Roskin, KM., Baertsch, R., Clawson, H., Furey, TS., Hinrichs, AS., Karolchik, D., Kent, WJ., Rosenbloom, KR., Trumbower, H., Weirauch, M., Cooper, DN., Stenson, PD., Ma, B., Brent, M., Arumugam, M., Shteynberg, D., Copley, RR., Taylor, MS., Riethman, H., Mudunuri, U., Peterson, J., Guyer, M., Felsenfeld, A., Old, S., Mockrin, S., Collins, F. and Rat Genome Sequencing Project Consortium, , 2004. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature, v. 428
    Doi: http://doi.org/10.1038/nature02426
  • Hajarnavis, A., Korf, I. and Durbin, R., 2004. A probabilistic model of 3' end formation in Caenorhabditis elegans. Nucleic Acids Res, v. 32
    Doi: http://doi.org/10.1093/nar/gkh656
  • International Human Genome Sequencing Consortium., and Woodfine, K., 2004. Finishing the euchromatic sequence of the human genome Nature, v. 431
  • Meyer, IM. and Durbin, R., 2004. Gene structure conservation aids similarity based gene prediction. Nucleic Acids Res, v. 32
    Doi: http://doi.org/10.1093/nar/gkh211
  • 2003

  • Stein, LD., Bao, Z., Blasiar, D., Blumenthal, T., Brent, MR., Chen, N., Chinwalla, A., Clarke, L., Clee, C., Coghlan, A., Coulson, A., D'Eustachio, P., Fitch, DHA., Fulton, LA., Fulton, RE., Griffiths-Jones, S., Harris, TW., Hillier, LW., Kamath, R., Kuwabara, PE., Mardis, ER., Marra, MA., Miner, TL., Minx, P., Mullikin, JC., Plumb, RW., Rogers, J., Schein, JE., Sohrmann, M., Spieth, J., Stajich, JE., Wei, C., Willey, D., Wilson, RK., Durbin, R. and Waterston, RH., 2003. The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics. PLoS Biol, v. 1
    Doi: http://doi.org/10.1371/journal.pbio.0000045
  • Coin, L., Bateman, A. and Durbin, R., 2003. Enhanced protein domain discovery by using language modeling techniques from speech recognition. Proc Natl Acad Sci U S A, v. 100
    Doi: http://doi.org/10.1073/pnas.0737502100
  • Kamath, RS., Fraser, AG., Dong, Y., Poulin, G., Durbin, R., Gotta, M., Kanapin, A., Le Bot, N., Moreno, S., Sohrmann, M., Welchman, DP., Zipperlen, P. and Ahringer, J., 2003. Systematic functional analysis of the Caenorhabditis elegans genome using RNAi. Nature, v. 421
    Doi: 10.1038/nature01278
  • Clamp, M., Andrews, D., Barker, D., Bevan, P., Cameron, G., Chen, Y., Clark, L., Cox, T., Cuff, J., Curwen, V., Down, T., Durbin, R., Eyras, E., Gilbert, J., Hammond, M., Hubbard, T., Kasprzyk, A., Keefe, D., Lehvaslaiho, H., Iyer, V., Melsopp, C., Mongin, E., Pettett, R., Potter, S., Rust, A., Schmidt, E., Searle, S., Slater, G., Smith, J., Spooner, W., Stabenau, A., Stalker, J., Stupka, E., Ureta-Vidal, A., Vastrik, I. and Birney, E., 2003. Ensembl 2002: accommodating comparative genomics. Nucleic Acids Res, v. 31
    Doi: http://doi.org/10.1093/nar/gkg083
  • Mungall, AJ., Palmer, SA., Sims, SK., Edwards, CA., Ashurst, JL., Wilming, L., Jones, MC., Horton, R., Hunt, SE., Scott, CE., Gilbert, JGR., Clamp, ME., Bethel, G., Milne, S., Ainscough, R., Almeida, JP., Ambrose, KD., Andrews, TD., Ashwell, RIS., Babbage, AK., Bagguley, CL., Bailey, J., Banerjee, R., Barker, DJ., Barlow, KF., Bates, K., Beare, DM., Beasley, H., Beasley, O., Bird, CP., Blakey, S., Bray-Allen, S., Brook, J., Brown, AJ., Brown, JY., Burford, DC., Burrill, W., Burton, J., Carder, C., Carter, NP., Chapman, JC., Clark, SY., Clark, G., Clee, CM., Clegg, S., Cobley, V., Collier, RE., Collins, JE., Colman, LK., Corby, NR., Coville, GJ., Culley, KM., Dhami, P., Davies, J., Dunn, M., Earthrowl, ME., Ellington, AE., Evans, KA., Faulkner, L., Francis, MD., Frankish, A., Frankland, J., French, L., Garner, P., Garnett, J., Ghori, MJR., Gilby, LM., Gillson, CJ., Glithero, RJ., Grafham, DV., Grant, M., Gribble, S., Griffiths, C., Griffiths, M., Hall, R., Halls, KS., Hammond, S., Harley, JL., Hart, EA., Heath, PD., Heathcott, R., Holmes, SJ., Howden, PJ., Howe, KL., Howell, GR., Huckle, E., Humphray, SJ., Humphries, MD., Hunt, AR., Johnson, CM., Joy, AA., Kay, M., Keenan, SJ., Kimberley, AM., King, A., Laird, GK., Langford, C., Lawlor, S., Leongamornlert, DA., Leversha, M., Lloyd, CR., Lloyd, DM., Loveland, JE., Lovell, J., Martin, S., Mashreghi-Mohammadi, M., Maslen, GL., Matthews, L., McCann, OT., McLaren, SJ., McLay, K., McMurray, A., Moore, MJF., Mullikin, JC., Niblett, D., Nickerson, T., Novik, KL., Oliver, K., Overton-Larty, EK., Parker, A., Patel, R., Pearce, AV., Peck, AI., Phillimore, B., Phillips, S., Plumb, RW., Porter, KM., Ramsey, Y., Ranby, SA., Rice, CM., Ross, MT., Searle, SM., Sehra, HK., Sheridan, E., Skuce, CD., Smith, S., Smith, M., Spraggon, L., Squares, SL., Steward, CA., Sycamore, N., Tamlyn-Hall, G., Tester, J., Theaker, AJ., Thomas, DW., Thorpe, A., Tracey, A., Tromans, A., Tubby, B., Wall, M., Wallis, JM., West, AP., White, SS., Whitehead, SL., Whittaker, H., Wild, A., Willey, DJ., Wilmer, TE., Wood, JM., Wray, PW., Wyatt, JC., Young, L., Younger, RM., Bentley, DR., Coulson, A., Durbin, R., Hubbard, T., Sulston, JE., Dunham, I., Rogers, J. and Beck, S., 2003. The DNA sequence and analysis of human chromosome 6. Nature, v. 425
    Doi: http://doi.org/10.1038/nature02055
  • Mulder, NJ., Apweiler, R., Attwood, TK., Bairoch, A., Barrell, D., Bateman, A., Binns, D., Biswas, M., Bradley, P., Bork, P., Bucher, P., Copley, RR., Courcelle, E., Das, U., Durbin, R., Falquet, L., Fleischmann, W., Griffiths-Jones, S., Haft, D., Harte, N., Hulo, N., Kahn, D., Kanapin, A., Krestyaninova, M., Lopez, R., Letunic, I., Lonsdale, D., Silventoinen, V., Orchard, SE., Pagni, M., Peyruc, D., Ponting, CP., Selengut, JD., Servant, F., Sigrist, CJA., Vaughan, R. and Zdobnov, EM., 2003. The InterPro Database, 2003 brings increased coverage and new features. Nucleic Acids Res, v. 31
    Doi: http://doi.org/10.1093/nar/gkg046
  • Myers, G. and Durbin, R., 2003. A table-driven, full-sensitivity similarity search algorithm. J Comput Biol, v. 10
    Doi: http://doi.org/10.1089/106652703321825919
  • Harris, TW., Lee, R., Schwarz, E., Bradnam, K., Lawson, D., Chen, W., Blasier, D., Kenny, E., Cunningham, F., Kishore, R., Chan, J., Muller, H-M., Petcherski, A., Thorisson, G., Day, A., Bieri, T., Rogers, A., Chen, C-K., Spieth, J., Sternberg, P., Durbin, R. and Stein, LD., 2003. WormBase: a cross-species database for comparative genomics. Nucleic Acids Res, v. 31
    Doi: http://doi.org/10.1093/nar/gkg053
  • 2002

  • Mulder, NJ., Apweiler, R., Attwood, TK., Bairoch, A., Bateman, A., Binns, D., Biswas, M., Bradley, P., Bork, P., Bucher, P., Copley, R., Courcelle, E., Durbin, R., Falquet, L., Fleischmann, W., Gouzy, J., Griffith-Jones, S., Haft, D., Hermjakob, H., Hulo, N., Kahn, D., Kanapin, A., Krestyaninova, M., Lopez, R., Letunic, I., Orchard, S., Pagni, M., Peyruc, D., Ponting, CP., Servant, F., Sigrist, CJA. and InterPro Consortium, , 2002. InterPro: an integrated documentation resource for protein families, domains and functional sites. Brief Bioinform, v. 3
    Doi: http://doi.org/10.1093/bib/3.3.225
  • Howe, K., Bateman, A. and Durbin, R., 2002. QuickTree: building huge Neighbour-Joining trees of protein sequences. Bioinformatics, v. 18
    Doi: http://doi.org/10.1093/bioinformatics/18.11.1546
  • Meyer, IM. and Durbin, R., 2002. Comparative ab initio prediction of gene structures using pair HMMs. Bioinformatics, v. 18
    Doi: http://doi.org/10.1093/bioinformatics/18.10.1309
  • Hubbard, T., Barker, D., Birney, E., Cameron, G., Chen, Y., Clark, L., Cox, T., Cuff, J., Curwen, V., Down, T., Durbin, R., Eyras, E., Gilbert, J., Hammond, M., Huminiecki, L., Kasprzyk, A., Lehvaslaiho, H., Lijnzaad, P., Melsopp, C., Mongin, E., Pettett, R., Pocock, M., Potter, S., Rust, A., Schmidt, E., Searle, S., Slater, G., Smith, J., Spooner, W., Stabenau, A., Stalker, J., Stupka, E., Ureta-Vidal, A., Vastrik, I. and Clamp, M., 2002. The Ensembl genome database project. Nucleic Acids Res, v. 30
    Doi: http://doi.org/10.1093/nar/30.1.38
  • Bateman, A., Birney, E., Cerruti, L., Durbin, R., Etwiller, L., Eddy, SR., Griffiths-Jones, S., Howe, KL., Marshall, M. and Sonnhammer, ELL., 2002. The Pfam protein families database. Nucleic Acids Res, v. 30
    Doi: http://doi.org/10.1093/nar/30.1.276
  • Howe, KL., Chothia, T. and Durbin, R., 2002. GAZE: a generic framework for the integration of gene-prediction data by dynamic programming. Genome Res, v. 12
    Doi: http://doi.org/10.1101/gr.149502
  • 2001

  • Levine, A. and Durbin, R., 2001. A computational scan for U12-dependent introns in the human genome sequence. Nucleic Acids Res, v. 29
    Doi: http://doi.org/10.1093/nar/29.19.4006
  • Stein, L., Mangone, M., Schwarz, E., Durbin, R., Thierry-Mieg, J., Spieth, J. and Sternberg, P., 2001. WormBase: network access to the genome and biology of Caenorhabditis elegans (vol 29, pg 82, 2001) NUCLEIC ACIDS RESEARCH, v. 29
  • Apweiler, R., Attwood, TK., Bairoch, A., Bateman, A., Birney, E., Biswas, M., Bucher, P., Cerutti, L., Corpet, F., Croning, MD., Durbin, R., Falquet, L., Fleischmann, W., Gouzy, J., Hermjakob, H., Hulo, N., Jonassen, I., Kahn, D., Kanapin, A., Karavidopoulou, Y., Lopez, R., Marx, B., Mulder, NJ., Oinn, TM., Pagni, M., Servant, F., Sigrist, CJ. and Zdobnov, EM., 2001. The InterPro database, an integrated documentation resource for protein families, domains and functional sites. Nucleic Acids Res, v. 29
    Doi: http://doi.org/10.1093/nar/29.1.37
  • Stein, L., Sternberg, P., Durbin, R., Thierry-Mieg, J. and Spieth, J., 2001. WormBase: network access to the genome and biology of Caenorhabditis elegans. Nucleic Acids Res, v. 29
    Doi: http://doi.org/10.1093/nar/29.1.82
  • Deloukas, P., Matthews, LH., Ashurst, J., Burton, J., Gilbert, JG., Jones, M., Stavrides, G., Almeida, JP., Babbage, AK., Bagguley, CL., Bailey, J., Barlow, KF., Bates, KN., Beard, LM., Beare, DM., Beasley, OP., Bird, CP., Blakey, SE., Bridgeman, AM., Brown, AJ., Buck, D., Burrill, W., Butler, AP., Carder, C., Carter, NP., Chapman, JC., Clamp, M., Clark, G., Clark, LN., Clark, SY., Clee, CM., Clegg, S., Cobley, VE., Collier, RE., Connor, R., Corby, NR., Coulson, A., Coville, GJ., Deadman, R., Dhami, P., Dunn, M., Ellington, AG., Frankland, JA., Fraser, A., French, L., Garner, P., Grafham, DV., Griffiths, C., Griffiths, MN., Gwilliam, R., Hall, RE., Hammond, S., Harley, JL., Heath, PD., Ho, S., Holden, JL., Howden, PJ., Huckle, E., Hunt, AR., Hunt, SE., Jekosch, K., Johnson, CM., Johnson, D., Kay, MP., Kimberley, AM., King, A., Knights, A., Laird, GK., Lawlor, S., Lehvaslaiho, MH., Leversha, M., Lloyd, C., Lloyd, DM., Lovell, JD., Marsh, VL., Martin, SL., McConnachie, LJ., McLay, K., McMurray, AA., Milne, S., Mistry, D., Moore, MJ., Mullikin, JC., Nickerson, T., Oliver, K., Parker, A., Patel, R., Pearce, TA., Peck, AI., Phillimore, BJ., Prathalingam, SR., Plumb, RW., Ramsay, H., Rice, CM., Ross, MT., Scott, CE., Sehra, HK., Shownkeen, R., Sims, S., Skuce, CD., Smith, ML., Soderlund, C., Steward, CA., Sulston, JE., Swann, M., Sycamore, N., Taylor, R., Tee, L., Thomas, DW., Thorpe, A., Tracey, A., Tromans, AC., Vaudin, M., Wall, M., Wallis, JM., Whitehead, SL., Whittaker, P., Willey, DL., Williams, L., Williams, SA., Wilming, L., Wray, PW., Hubbard, T., Durbin, RM., Bentley, DR., Beck, S. and Rogers, J., 2001. The DNA sequence and comparative analysis of human chromosome 20. Nature, v. 414
    Doi: http://doi.org/10.1038/414865a
  • Micklem, G. and The Genome Sequencing Consortium, , 2001. Initial sequencing and analysis of the human genome Nature, v. 409
  • Bentley, DR., Deloukas, P., Dunham, A., French, L., Gregory, SG., Humphray, SJ., Mungall, AJ., Ross, MT., Carter, NP., Dunham, I., Scott, CE., Ashcroft, KJ., Atkinson, AL., Aubin, K., Beare, DM., Bethel, G., Brady, N., Brook, JC., Burford, DC., Burrill, WD., Burrows, C., Butler, AP., Carder, C., Catanese, JJ., Clee, CM., Clegg, SM., Cobley, V., Coffey, AJ., Cole, CG., Collins, JE., Conquer, JS., Cooper, RA., Culley, KM., Dawson, E., Dearden, FL., Durbin, RM., de Jong, PJ., Dhami, PD., Earthrowl, ME., Edwards, CA., Evans, RS., Gillson, CJ., Ghori, J., Green, L., Gwilliam, R., Halls, KS., Hammond, S., Harper, GL., Heathcott, RW., Holden, JL., Holloway, E., Hopkins, BL., Howard, PJ., Howell, GR., Huckle, EJ., Hughes, J., Hunt, PJ., Hunt, SE., Izmajlowicz, M., Jones, CA., Joseph, SS., Laird, G., Langford, CF., Lehvaslaiho, MH., Leversha, MA., McCann, OT., McDonald, LM., McDowall, J., Maslen, GL., Mistry, D., Moschonas, NK., Neocleous, V., Pearson, DM., Phillips, KJ., Porter, KM., Prathalingam, SR., Ramsey, YH., Ranby, SA., Rice, CM., Rogers, J., Rogers, LJ., Sarafidou, T., Scott, DJ., Sharp, GJ., Shaw-Smith, CJ., Smink, LJ., Soderlund, C., Sotheran, EC., Steingruber, HE., Sulston, JE., Taylor, A., Taylor, RG., Thorpe, AA., Tinsley, E., Warry, GL., Whittaker, A., Whittaker, P., Williams, SH., Wilmer, TE., Wooster, R. and Wright, CL., 2001. The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. Nature, v. 409
    Doi: http://doi.org/10.1038/35057165
  • Lander, ES., Linton, LM., Birren, B., Nusbaum, C., Zody, MC., Baldwin, J., Devon, K., Dewar, K., Doyle, M., Fitzhugh, W., Funke, R., Gage, D., Harris, K., Heaford, A., Howland, J., Kann, L., Lehoczky, J., Levine, R., McEwan, P., McKernan, K., Meldrim, J., Mesirov, JP., Miranda, C., Morris, W., Naylor, J., Raymond, C., Rosetti, M., Santos, R., Sheridan, A., Sougnez, C., Stange-Thomann, N., Stojanovic, N., Subramanian, A., Wyman, D., Rogers, J., Sulston, J., Ainscough, R., Beck, S., Bentley, D., Burton, J., Clee, C., Carter, N., Coulson, A., Deadman, R., Deloukas, P., Dunham, A., Dunham, I., Durbin, R., French, L., Grafham, D., Gregory, S., Hubbard, T., Humphray, S., Hunt, A., Jones, M., Lloyd, C., McMurray, A., Matthews, L., Mercer, S., Milne, S., Mullikin, JC., Mungall, A., Plumb, R., Ross, M., Shownkeen, R., Sims, S., Waterston, RH., Wilson, RK., Hillier, LW., McPherson, JD., Marra, MA., Mardis, ER., Fulton, LA., Chinwalla, AT., Pepin, KH., Gish, WR., Chissoe, SL., Wendl, MC., Delehaunty, KD., Miner, TL., Delehaunty, A., Kramer, JB., Cook, LL., Fulton, RS., Johnson, DL., Minx, PJ., Clifton, SW., Hawkins, T., Branscomb, E., Predki, P., Richardson, P., Wenning, S., Slezak, T., Doggett, N., Cheng, JF., Olsen, A., Lucas, S., Elkin, C., Uberbacher, E. and Frazier, M., 2001. Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921)) Nature, v. 412
    Doi: http://doi.org/10.1038/35087627
  • 2000

  • Bateman, A., Birney, E., Durbin, R., Eddy, SR., Howe, KL. and Sonnhammer, EL., 2000. The Pfam protein families database. Nucleic Acids Res, v. 28
    Doi: http://doi.org/10.1093/nar/28.1.263
  • Jareborg, N. and Durbin, R., 2000. Alfresco--a workbench for comparative genomic sequence analysis. Genome Res, v. 10
    Doi: http://doi.org/10.1101/gr.10.8.1148
  • Apweiler, R., Attwood, TK., Bairoch, A., Bateman, A., Birney, E., Biswas, M., Bucher, P., Cerutti, L., Corpet, F., Croning, MD., Durbin, R., Falquet, L., Fleischmann, W., Gouzy, J., Hermjakob, H., Hulo, N., Jonassen, I., Kahn, D., Kanapin, A., Karavidopoulou, Y., Lopez, R., Marx, B., Mulder, NJ., Oinn, TM., Pagni, M., Servant, F., Sigrist, CJ., Zdobnov, EM. and InterPro Consortium, , 2000. InterPro--an integrated documentation resource for protein families, domains and functional sites. Bioinformatics, v. 16
    Doi: http://doi.org/10.1093/bioinformatics/16.12.1145
  • Birney, E. and Durbin, R., 2000. Using GeneWise in the Drosophila annotation experiment. Genome Res, v. 10
    Doi: http://doi.org/10.1101/gr.10.4.547
  • 1999

  • Bateman, A., Birney, E., Durbin, R., Eddy, SR., Finn, RD. and Sonnhammer, EL., 1999. Pfam 3.1: 1313 multiple alignments and profile HMMs match the majority of proteins. Nucleic Acids Res, v. 27
    Doi: http://doi.org/10.1093/nar/27.1.260
  • Jareborg, N., Birney, E. and Durbin, R., 1999. Comparative analysis of noncoding regions of 77 orthologous mouse and human gene pairs (vol 9, pg 815, 1999) GENOME RESEARCH, v. 9
  • Dunham, I., Shimizu, N., Roe, BA., Chissoe, S., Hunt, AR., Collins, JE., Bruskiewich, R., Beare, DM., Clamp, M., Smink, LJ., Ainscough, R., Almeida, JP., Babbage, A., Bagguley, C., Bailey, J., Barlow, K., Bates, KN., Beasley, O., Bird, CP., Blakey, S., Bridgeman, AM., Buck, D., Burgess, J., Burrill, WD. and O'Brien, KP., 1999. The DNA sequence of human chromosome 22. Nature, v. 402
    Doi: http://doi.org/10.1038/990031
  • Jareborg, N., Birney, E. and Durbin, R., 1999. Comparative analysis of noncoding regions of 77 orthologous mouse and human gene pairs. Genome Res, v. 9
    Doi: http://doi.org/10.1101/gr.9.9.815
  • 1998

  • Dear, S., Durbin, R., Hillier, L., Marth, G., Thierry-Mieg, J. and Mott, R., 1998. Sequence assembly with CAFTOOLS. Genome Res, v. 8
    Doi: http://doi.org/10.1101/gr.8.3.260
  • Sonnhammer, EL., Eddy, SR., Birney, E., Bateman, A. and Durbin, R., 1998. Pfam: multiple sequence alignments and HMM-profiles of protein domains. Nucleic Acids Res, v. 26
    Doi: http://doi.org/10.1093/nar/26.1.320
  • Durbin, R. and Dear, S., 1998. Base qualities help sequencing software. Genome Res, v. 8
    Doi: http://doi.org/10.1101/gr.8.3.161
  • Holmes, I. and Durbin, R., 1998. Dynamic programming alignment accuracy. J Comput Biol, v. 5
    Doi: http://doi.org/10.1089/cmb.1998.5.493
  • 1997

  • Rezsohazy, R., van Luenen, HG., Durbin, RM. and Plasterk, RH., 1997. Tc7, a Tc1-hitch hiking transposon in Caenorhabditis elegans. Nucleic Acids Res, v. 25
    Doi: http://doi.org/10.1093/nar/25.20.4048
  • Martinelli, SD., Brown, CG. and Durbin, R., 1997. Gene expression and development databases for C. elegans. Semin Cell Dev Biol, v. 8
    Doi: 10.1006/scdb.1997.0171
  • Sonnhammer, EL. and Durbin, R., 1997. Analysis of protein domain families in Caenorhabditis elegans. Genomics, v. 46
    Doi: http://doi.org/10.1006/geno.1997.4989
  • Sonnhammer, EL., Eddy, SR. and Durbin, R., 1997. Pfam: a comprehensive database of protein domain families based on seed alignments. Proteins, v. 28
    Doi: http://doi.org/10.1002/(sici)1097-0134(199707)28:3<405::aid-prot10>3.0.co;2-l
  • 1996

  • Korswagen, HC., Durbin, RM., Smits, MT. and Plasterk, RH., 1996. Transposon Tc1-derived, sequence-tagged sites in Caenorhabditis elegans as markers for gene mapping. Proc Natl Acad Sci U S A, v. 93
    Doi: http://doi.org/10.1073/pnas.93.25.14680
  • Hope, IA., Albertson, DG., Martinelli, SD., Lynch, AS., Sonnhammer, E. and Durbin, R., 1996. The C. elegans expression pattern database: a beginning. Trends Genet, v. 12
  • Hope, IA., Albertson, DG., Martinelli, SD., Lynch, AS., Sonnhammer, E. and Durbin, R., 1996. The C-elegans expression pattern database: A beginning TRENDS IN GENETICS, v. 12
    Doi: 10.1016/0168-9525(96)60033-X
  • 1995

  • Baxendale, S., Abdulla, S., Elgar, G., Buck, D., Berks, M., Micklem, G., Durbin, R., Bates, G., Brenner, S. and Beck, S., 1995. Comparative sequence analysis of the human and pufferfish Huntington's disease genes. Nat Genet, v. 10
    Doi: 10.1038/ng0595-67
  • SONNHAMMER, ELL. and DURBIN, R., 1995. A DOT-MATRIX PROGRAM WITH DYNAMIC THRESHOLD CONTROL SUITED FOR GENOMIC DNA AND PROTEIN-SEQUENCE ANALYSIS GENE-COMBIS, v. 167
  • Sewell, RF. and Durbin, R., 1995. Method for calculation of probability of matching a bounded regular expression in a random data string. J Comput Biol, v. 2
    Doi: http://doi.org/10.1089/cmb.1995.2.25
  • Eeckman, FH. and Durbin, R., 1995. ACeDB and macace. Methods Cell Biol, v. 48
  • Sonnhammer, EL. and Durbin, R., 1995. A dot-matrix program with dynamic threshold control suited for genomic DNA and protein sequence analysis. Gene, v. 167
    Doi: http://doi.org/10.1016/0378-1119(95)00714-8
  • Eddy, SR., Mitchison, G. and Durbin, R., 1995. Maximum discrimination hidden Markov models of sequence consensus. J Comput Biol, v. 2
    Doi: http://doi.org/10.1089/cmb.1995.2.9
  • Mitchison, G. and Durbin, R., 1995. Tree-based maximal likelihood substitution matrices and hidden Markov models Journal of Molecular Evolution, v. 41
    Doi: http://doi.org/10.1007/BF00173195
  • 1994

  • Ambrose, CM., Duyao, MP., Barnes, G., Bates, GP., Lin, CS., Srinidhi, J., Baxendale, S., Hummerich, H., Lehrach, H., Altherr, M., Wasmuth, J., Buckler, A., Church, D., Housman, D., Berks, M., Micklem, G., Durbin, R., Dodge, A., Read, A., Gusella, J. and MacDonald, ME., 1994. Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somat Cell Mol Genet, v. 20
    Doi: 10.1007/BF02257483
  • Sonnhammer, EL. and Durbin, R., 1994. A workbench for large-scale sequence homology analysis. Comput Appl Biosci, v. 10
    Doi: http://doi.org/10.1093/bioinformatics/10.3.301
  • Sonnhammer, EL. and Durbin, R., 1994. An expert system for processing sequence homology data. Proc Int Conf Intell Syst Mol Biol, v. 2
  • Eddy, SR. and Durbin, R., 1994. RNA sequence analysis using covariance models. Nucleic Acids Res, v. 22
    Doi: http://doi.org/10.1093/nar/22.11.2079
  • Wilson, R., Ainscough, R., Anderson, K., Baynes, C., Berks, M., Bonfield, J., Burton, J., Connell, M., Copsey, T. and Cooper, J., 1994. 2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans. Nature, v. 368
    Doi: http://doi.org/10.1038/368032a0
  • 1992

  • Sulston, J., Du, Z., Thomas, K., Wilson, R., Hillier, L., Staden, R., Halloran, N., Green, P., Thierry-Mieg, J., Qiu, L., Dear, S., Coulson, A., Craxton, M., Durbin, R., Berks, M., Metzstein, M., Hawkins, T., Ainscough, R. and Waterston, R., 1992. The C. elegans genome sequencing project: A beginning Nature, v. 356
    Doi: http://doi.org/10.1038/356037a0
  • Mitchison, G. and Durbin, R., 1992. Neural networks. Learning from your neighbour. Nature, v. 355
    Doi: http://doi.org/10.1038/355112a0
  • Sulston, J., Du, Z., Thomas, K., Wilson, R., Hillier, L., Staden, R., Halloran, N., Green, P., Thierry-Mieg, J. and Qiu, L., 1992. The C. elegans genome sequencing project: a beginning. Nature, v. 356
    Doi: http://doi.org/10.1038/356037a0
  • Mitchison, G. and Durbin, R., 1992. Learning from your neighbour Nature, v. 355
    Doi: http://doi.org/10.1038/355112a0
  • Waterston, R., Martin, C., Craxton, M., Huynh, C., Coulson, A., Hillier, L., Durbin, R., Green, P., Shownkeen, R. and Halloran, N., 1992. A survey of expressed genes in Caenorhabditis elegans. Nat Genet, v. 1
    Doi: http://doi.org/10.1038/ng0592-114
  • 1990

  • Durbin, R. and Mitchison, G., 1990. A dimension reduction framework for understanding cortical maps. Nature, v. 343
    Doi: http://doi.org/10.1038/343644a0
  • 1989

  • Durbin, R. and Rumelhart, DE., 1989. Product Units: A Computationally Powerful and Biologically Plausible Extension to Backpropagation Networks NEURAL COMPUTATION, v. 1
    Doi: http://doi.org/10.1162/neco.1989.1.1.133
  • Durbin, R., Szeliski, R. and Yuille, A., 1989. An Analysis of the Elastic Net Approach to the Traveling Salesman Problem NEURAL COMPUTATION, v. 1
    Doi: http://doi.org/10.1162/neco.1989.1.3.348
  • Mitchison, GJ. and Durbin, RM., 1989. Bounds on the learning capacity of some multi-layer networks Biological Cybernetics, v. 60
    Doi: http://doi.org/10.1007/BF00204772
  • Sulston, J., Mallett, F., Durbin, R. and Horsnell, T., 1989. Image analysis of restriction enzyme fingerprint autoradiograms. Comput Appl Biosci, v. 5
    Doi: http://doi.org/10.1093/bioinformatics/5.2.101
  • 1988

  • Sulston, J., Mallett, F., Staden, R., Durbin, R., Horsnell, T. and Coulson, A., 1988. Software for genome mapping by fingerprinting techniques. Comput Appl Biosci, v. 4
    Doi: http://doi.org/10.1093/bioinformatics/4.1.125
  • Durbin, R. and Mitchison, G., 1988. Dimension reduction models for topographical maps in the cortex Neural Networks, v. 1
    Doi: http://doi.org/10.1016/0893-6080(88)90513-8
  • Fine, A., Amos, WB., Durbin, RM. and McNaughton, PA., 1988. Confocal microscopy: applications in neurobiology. Trends Neurosci, v. 11
    Doi: http://doi.org/10.1016/0166-2236(88)90056-2
  • 1987

  • Durbin, R. and Willshaw, D., 1987. An analogue approach to the travelling salesman problem using an elastic net method. Nature, v. 326
    Doi: http://doi.org/10.1038/326689a0
  • 1986

  • Durbin, RM., Burns, R., Moulai, J., Metcalf, P., Freymann, D., Blum, M., Anderson, JE., Harrison, SC. and Wiley, DC., 1986. Protein, DNA, and virus crystallography with a focused imaging proportional counter. Science, v. 232
    Doi: http://doi.org/10.1126/science.3704639
  • MITCHISON, G. and DURBIN, R., 1986. OPTIMAL NUMBERINGS OF AN NXN ARRAY SIAM JOURNAL ON ALGEBRAIC AND DISCRETE METHODS, v. 7
    Doi: 10.1137/0607063
  • 1985

  • Harrison, SC. and Durbin, R., 1985. Is there a single pathway for the folding of a polypeptide chain? Proc Natl Acad Sci U S A, v. 82
    Doi: http://doi.org/10.1073/pnas.82.12.4028
  • Harrison, SC., Winkler, FK., Schutt, CE. and Durbin, RM., 1985. Diffraction methods for biological macromolecules. Oscillation method with large unit cells. Methods Enzymol, v. 114
    Doi: http://doi.org/10.1016/0076-6879(85)14021-8
  • Davey, JW., Barker, SL., Rastas, PM., Pinharanda, A., Martin, SH., Durbin, R., McMillan, WO., Merrill, RM. and Jiggins, CD., No evidence for maintenance of a sympatric Heliconius species barrier by chromosomal inversions Evolution Letters,
    Doi: 10.1002/evl3.12
  • Martiniano, R., Garrison, E., Jones, E., Manica, A. and Durbin, R., Removing reference bias in ancient DNA data analysis by mapping to a sequence variation graph Genome Biology,
  • Mead, D., Saccheri, I., Yung, CJ., Lohse, K., Lohse, C., Ashmole, P., Smith, M., Corton, C., Oliver, K., Skelton, J., Betteridge, E., Quail, MA., Dolucan, J., McCarthy, SA., Howe, K., Wood, J., Torrance, J., Tracey, A., Whiteford, S., Challis, R., Durbin, R. and Blaxter, M., The genome sequence of the ringlet, Aphantopus hyperantus Linnaeus 1758 Wellcome Open Research, v. 6
    Doi: http://doi.org/10.12688/wellcomeopenres.16983.1
  • Ferguson-Smith, AC., Lilue, J., Doran, A., Fiddes, I., Abrudan, M., Armstrong, J., Bennett, R., Chow, W., Collins, J., Collins, S., Czechanski, A., Danecek, P., Diekhans, M., Dirk-Dominik, D., Dunn, M., Durbin, R., Earl, D., Flicek, P., Flint, J., Frankish, A., Fu, B., Gerstein, M., Gilbert, J., Goodstadt, L., Harrow, J., Howe, K., Ibarra-Soria, X., Kolmogorov, M., Lelliott, C., Logan, D., Loveland, J., Mathews, C., Mott, R., Muir, P., Nachtweide, S., Navarro, F., Odom, D., Park, N., Pelan, S., Pham, S., Quail, M., Reinholdt, L., Romoth, L., Shirley, L., Sisu, C., Sjoberg-Herrera, M., Stanke, M., Steward, C., Thomas, M., Threadgold, G., Thybert, D., Torrance, J., Wong, K., Wood, J., Yalcin, B., Yang, F., Adams, D., Paten, B. and Keane, T., Sixteen diverse laboratory mouse reference genomes define strain specific haplotypes and novel functional loci Nature Genetics,
  • Nik-Zainal, S., Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells Nature Genetics,
    Doi: 10.1038/s41588-022-01147-3
  • Durbin, R., Dawson, E. and Garrison, E., Viral coinfection analysis using a MinHash toolkit BMC Bioinformatics,
  • Narasimhan, VM. and Maher, ER., Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes Nature Communications, v. 8
    Doi: http://doi.org/10.1038/s41467-017-00323-y
  • Durbin, R., fruit fly BMC Biochemistry,
  • Garg, S., Aach, J., Li, H., Durbin, R. and Church, G., A haplotype-aware de novo assembly of related individuals using pedigree sequence graph. Bioinformatics,
    Doi: http://doi.org/10.1093/bioinformatics/btz942
  • Vernaz, G., Malinsky, M., Svardal, H., Du, M., Tyers, A., Santos, E., Durbin, R., Genner, M., Turner, G. and Miska, E., Mapping epigenetic divergence in the massive radiation of Lake Malawi cichlid fishes Nature Communications,
  • Sirén, J., Garrison, E., Novak, AM., Paten, B. and Durbin, R., Haplotype-aware graph indexes Bioinformatics,
    Doi: http://doi.org/10.1093/bioinformatics/btz575
  • Bergstrom, A., McCarthy, S., Almarri, M., Hui, R., Ayub, Q., Danecek, P., Chen, Y., Felkel, S., Hallast, P., Kamm, J., Blanche, H., Deleuze, J-F., Cann, H., Mallick, S., Reich, D., Sandhu, M., Skoglund, P., Scally, A., Xue, Y., Durbin, R. and Tyler-Smith, C., Insights into human genetic variation and population history from 929 diverse genomes Science,
    Doi: 10.1126/science.aay5012
  • Guan, D., McCarthy, S., Wood, J., Howe, K., Wang, Y. and Durbin, R., Identifying and removing haplotypic duplication in primary genome assemblies Bioinformatics,
    Doi: http://doi.org/10.1093/bioinformatics/btaa025
  • Heaton, W., Talman, A., Knights, A., Imaz, M., Gaffney, D., Durbin, R., Hemberg, M. and Lawniczak, M., souporcell: Robust clustering of single cell RNAseq by genotype without reference genotypes Nature Methods,
  • Dawson, E. and Durbin, R., GFAKluge: A C++ library and command line utilities for the Graphical Fragment Assembly formats Journal of Open Source Software, v. 4
    Doi: http://doi.org/10.21105/joss.01083
  • Lim, AANDFTSISSP., Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population PLOS Genetics, v. 10
    Doi: http://doi.org/10.1371/journal.pgen.1004494
  • Sherkow, JS., Barker, K., Braverman, I., Cook-Deegan, RM., Durbin, R., Easter, C., Goldstein, M., Hudson, M., Kress, WJ., Lewin, H., Mathews, DJH., McCarthy, C., McCartney, A., da Silva, M., Torrance, AW. and Greely, HHT., Ethical, Legal, and Social Issues in the Earth BioGenome Project SSRN Electronic Journal,
    Doi: 10.2139/ssrn.3840280
  • Kwon, YM., Vranken, N., Hoge, C., Lichak, M., Francis, K., Camacho-Garcia, J., Bista, I., Wood, J., McCarthy, S., Chow, W., Tan, HH., Howe, K., Bandara, S., von Lintig, J., Rüber, L., Durbin, R., Svardal, H. and Bendesky, A., Genomic consequences of domestication of the Siamese fighting fish Science Advances,
  • Internet publications

    2022

  • Guan, D., McCarthy, S., Wood, J., Sims, Y., Chow, W., Ning, Z., Howe, K., Wang, G., Wang, Y. and Durbin, R., 2022. Genome sequence assembly evaluation using long-range sequencing data
    Doi: 10.1101/2022.05.10.491304
  • Zhou, C., McCarthy, S. and Durbin, R., 2022. YaHS: yet another Hi-C scaffolding tool
    Doi: 10.1101/2022.06.09.495093
  • Bista, I., Wood, J., Desvignes, T., McCarthy, S., Matschiner, M., Ning, Z., Tracey, A., Torrance, J., Sims, Y., Chow, W., Smith, M., Oliver, K., Haggerty, L., Salzburger, W., Postlethwait, J., Howe, K., Clark, M., Detrich, W., Cheng, C-HC., Miska, E. and Durbin, R., 2022. Genomics of cold adaptations in the Antarctic notothenioid fish radiation
    Doi: 10.1101/2022.06.08.494096
  • 2021

  • Kwon, YM., Vranken, N., Hoge, C., Lichak, M., Francis, K., Camacho-Garcia, J., Bista, I., Wood, J., McCarthy, S., Chow, W., Tan, HH., Howe, K., Bandara, S., von Lintig, J., Rüber, L., Durbin, R., Svardal, H. and Bendesky, A., 2021. Genomic consequences of domestication of the Siamese fighting fish
    Doi: 10.1101/2021.04.29.442030
  • 2020

  • Vernaz, G., Malinsky, M., Svardal, H., Du, M., Tyers, A., Santos, E., Durbin, R., Genner, M., Turner, G. and Miska, E., 2020. Mapping epigenetic divergence in the massive radiation of Lake Malawi cichlid fishes
    Doi: 10.1101/2020.11.24.383034
  • 2019

  • Bergström, A., McCarthy, S., Hui, R., Almarri, M., Ayub, Q., Danecek, P., Chen, Y., Felkel, S., Hallast, P., Kamm, J., Blanché, H., Deleuze, J-F., Cann, H., Mallick, S., Reich, D., Sandhu, M., Skoglund, P., Scally, A., Xue, Y., Durbin, R. and Tyler-Smith, C., 2019. Insights into human genetic variation and population history from 929 diverse genomes
    Doi: 10.1101/674986
  • Svardal, H., Quah, FX., Malinsky, M., Ngatunga, B., Miska, E., Salzburger, W., Genner, M., Turner, G. and Durbin, R., 2019. Ancestral hybridisation facilitated species diversification in the Lake Malawi cichlid fish adaptive radiation
    Doi: 10.1101/738633
  • Sirén, J., Garrison, E., Novak, A., Paten, B. and Durbin, R., 2019. Haplotype-aware graph indexes
    Doi: 10.1101/559583
  • Guan, D., McCarthy, S., Wood, J., Howe, K., Wang, Y. and Durbin, R., 2019. Identifying and removing haplotypic duplication in primary genome assemblies
    Doi: 10.1101/729962
  • 2016

  • Malinsky, M., Simpson, J. and Durbin, R., 2016. trio-sga: facilitating de novo assembly of highly heterozygous genomes with parent-child trios
    Doi: http://doi.org/10.1101/051516
  • Narasimhan, V., Rahbari, R., Scally, A., Wuster, A., Mason, D., Xue, Y., Wright, J., Trembath, R., Maher, E., van Heel, D., Auton, A., Hurles, M., Tyler-Smith, C. and Durbin, R., 2016. A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals
    Doi: 10.1101/059436
  • Book chapters

    2015

  • Koepfli, K-P., Paten, B., Genome 10K Community of Scientists, and O'Brien, SJ., 2015. The Genome 10K Project: a way forward.
    Doi: 10.1146/annurev-animal-090414-014900
  • 2004

  • Durbin, R., 2004. Finding genes in the human genome with hidden Markov models
    Doi: http://doi.org/10.1017/CBO9780511617010.015
  • 1994

  • DURBIN, R. and THIERRYMIEG, J., 1994. THE ACEDB GENOME DATABASE
  • Books

    1998

  • Durbin, R., Eddy, SR., Krogh, A. and Mitchison, G., 1998. Biological Sequence Analysis
    Doi: 10.1017/cbo9780511790492
  • Conference proceedings

    2018

  • Dawson, ET., Wagner, S., Roberson, D., Yeager, M., Boland, J., Garrison, E., Schiffman, M., Raine-Bennet, T., Lorey, T., Castle, P., Chanock, S., Mirabello, L. and Durbin, R., 2018. rkmh: A MinHash toolbox for analyzing HPV coinfections CANCER RESEARCH, v. 78
    Doi: 10.1158/1538-7445.AM2018-3273
  • Sirén, J., Garrison, E., Novak, AM., Paten, B. and Durbin, R., 2018. Haplotype-aware graph indexes Leibniz International Proceedings in Informatics, LIPIcs, v. 113
    Doi: http://doi.org/10.4230/LIPIcs.WABI.2018.4
  • Garg, S., Rautiainen, M., Novak, AM., Garrison, E., Durbin, R. and Marschall, T., 2018. A graph-based approach to diploid genome assembly. Bioinformatics, v. 34
    Doi: 10.1093/bioinformatics/bty279
  • 2014

  • Zheng, H-F., Forgetta, V., Hsu, Y-H., Estrada, K., Leo, P., Tobias, J., Kooperberg, C., Liu, C-T., Rosello-Diez, A., Evans, D., Nielson, C., Pettersson-Kymmer, U., Eriksson, J., Kwan, T., Walter, K., Memari, Y., McCarthy, S., Min, J., Huang, J., Danecek, P., Wilmot, B., Li, R., Chou, W-C., Mokry, L., Moayyeri, A., Claussnitzer, M., Cheng, C-H., Cheung, W., Medina-Gomez, C., Ge, B., Chen, S-H., Choi, K., Oei, L., Fraser, J., Kraaij, R., Hibbs, M., Gregson, C., Paquette, D., Hofman, A., Wibom, C., Marshall, M., Gardiner, B., Auer, P., Hsu, L., Ring, S., van der Velde, N., Melin, B., Kemp, J., Sayers, A., Zhou, Y., Calderari, S., Maurano, M., van Rooij, J., Carlson, C., Peters, U., Berlivet, S., Dostie, J., Ohlsson, C., Uitterlinden, A., Goltzman, D., Pastinen, T., Grundberg, E., Gauguier, D., Orwoll, E., Karasik, D., Dahia, C., Davey-Smith, G., Timpson, N., Soranzo, N., Durbin, R., Wilson, S., Brown, M., Spector, T., Cupples, LA., Greenwood, C., Loomis, C., Ackert-Bicknell, C., Joyner, A., Jackson, R., Duncan, E., Evans, D., Rivadeneira, F., Kiel, D. and Richards, B., 2014. A large-scale whole genome sequence-based analysis discovered novel genetic variants influencing bone mineral density: Results from the GEFOS and UK10K Consortia. JOURNAL OF BONE AND MINERAL RESEARCH, v. 29
  • Durbin, R., 2014. Human genetic diversity and functional variation FEBS JOURNAL, v. 281
  • 2013

  • Liti, G., Bergstroem, A., Simpson, J., Salinas, F., Parts, L., Zia, A., Moses, A., Louis, E., Mustonen, V., Warringer, J. and Durbin, R., 2013. A high-definition view of functional variation from natural yeast genomes YEAST, v. 30
  • 2012

  • Buil, A., Brown, A., Davies, M., Vinuela, A., Gallardo, M., Glass, D., Blasco, M., Durbin, R., Spector, TD. and Dermitzakis, ET., 2012. NGS Transcriptome Genomic Analysis in Three Tissues of a Twin Cohort GENETIC EPIDEMIOLOGY, v. 36
  • 2011

  • Glass, D., Parts, L., Knowles, D., Nica, AC., Nisbet, J., Barrett, A., Sekowska, M., Travers, M., Potter, S., Grundberg, E., Small, K., Hedman, ASA., Bell, JT., Surdulescu, G., Nestle, FO., di Meglio, P., Durbin, R., Ahmadi, K., Winn, J., Bataille, V., Deloukas, P., McCarthy, MI., Spector, TD., Dermitzakis, ET. and For, M., 2011. Biomarkers of skin ageing using genome wide transcriptomics JOURNAL OF INVESTIGATIVE DERMATOLOGY, v. 131
  • 2010

  • Durbin, R., 2010. Issues in interpreting and using genome-wide sequence data JOURNAL OF MEDICAL GENETICS, v. 47
  • Simpson, JT. and Durbin, R., 2010. Efficient construction of an assembly string graph using the FM-index. Bioinformatics, v. 26
    Doi: http://doi.org/10.1093/bioinformatics/btq217
  • 2008

  • Stegle, O., Kannan, A., Durbin, R. and Winn, J., 2008. Accounting for non-genetic factors improves the power of eQTL studies Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), v. 4955 LNBI
    Doi: http://doi.org/10.1007/978-3-540-78839-3_35
  • 1997

  • Birney, E. and Durbin, R., 1997. Dynamite: a flexible code generating language for dynamic programming methods used in sequence comparison. Proc Int Conf Intell Syst Mol Biol, v. 5
  • 1994

  • COLLINS, JE., COLE, CR., SMINK, LJ., GARRETT, CL., COFFEY, AJ., GREGORY, SG., DAVIES, AF., HASSOCK, S., TODD, CM., DUMANSKI, JP., SCAMBLER, PJ., KIM, UJ., MASLEN, GL., SODERLUND, C., DURBIN, R., BENTLEY, DR. and DUNHAM, I., 1994. TOWARDS A FULLY INTEGRATED, HIGH-RESOLUTION PHYSICAL MAP OF CHROMOSOME-22 CYTOGENETICS AND CELL GENETICS, v. 67
  • MASLEN, GL., DUNHAM, I., BENTLEY, DR. and DURBIN, R., 1994. INTEGRATION OF X-CHROMOSOME CLONE MAPS WITH PHYSICAL AND GENETIC INFORMATION - THE XACE IMPLEMENTATION OF ACEDB CYTOGENETICS AND CELL GENETICS, v. 67
  • 1993

  • Waterston, R., Ainscough, R., Anderson, K., Berks, M., Blair, D., Connell, M., Cooper, J., Coulson, A., Craxton, M. and Dear, S., 1993. The genome of the nematode Caenorhabditis elegans. Cold Spring Harb Symp Quant Biol, v. 58
    Doi: http://doi.org/10.1101/sqb.1993.058.01.043
  • 1984

  • DURBIN, RM., BURNS, R., MOULAI, J., METCALF, P., HARRISON, SC. and WILEY, DC., 1984. PROTEIN AND VIRUS X-RAY DATA-COLLECTION WITH A XENTRONICS AREA DETECTOR ACTA CRYSTALLOGRAPHICA SECTION A, v. 40
    Doi: http://doi.org/10.1107/S0108767384088115
  • Theses / dissertations
  • Klarqvist, M., Efficient analysis and storage of large-scale genomic data
  • Heaton, W., Computational methods for single cell RNA and genome assembly resolution using genetic variation