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A general framework for estimating the relative pathogenicity of human genetic variants M Kircher, DM Witten, P Jain, BJ O'Roak, GM Cooper, J Shendure Nature genetics 46 (3), 310-315, 2014 | 3885 | 2014 |
Targeted capture and massively parallel sequencing of 12 human exomes SB Ng, EH Turner, PD Robertson, SD Flygare, AW Bigham, C Lee, ... Nature 461 (7261), 272-276, 2009 | 2228 | 2009 |
Exome sequencing identifies the cause of a mendelian disorder SB Ng, KJ Buckingham, C Lee, AW Bigham, HK Tabor, KM Dent, CD Huff, ... Nature genetics 42 (1), 30-35, 2010 | 2188 | 2010 |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ... Nature 485 (7397), 246-250, 2012 | 1915 | 2012 |
Accurate multiplex polony sequencing of an evolved bacterial genome J Shendure, GJ Porreca, NB Reppas, X Lin, JP McCutcheon, ... Science 309 (5741), 1728-1732, 2005 | 1855 | 2005 |
Exome sequencing as a tool for Mendelian disease gene discovery MJ Bamshad, SB Ng, AW Bigham, HK Tabor, MJ Emond, DA Nickerson, ... Nature Reviews Genetics 12 (11), 745-755, 2011 | 1775 | 2011 |
The complete genome sequence of a Neanderthal from the Altai Mountains K Prüfer, F Racimo, N Patterson, F Jay, S Sankararaman, S Sawyer, ... Nature 505 (7481), 43-49, 2014 | 1588 | 2014 |
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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome SB Ng, AW Bigham, KJ Buckingham, MC Hannibal, MJ McMillin, ... Nature genetics 42 (9), 790-793, 2010 | 1342 | 2010 |
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz, S Girirajan, ... Nature genetics 43 (6), 585, 2011 | 1216 | 2011 |
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Guidelines for investigating causality of sequence variants in human disease DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ... Nature 508 (7497), 469-476, 2014 | 1054 | 2014 |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ... Science 338 (6114), 1619-1622, 2012 | 1047 | 2012 |
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer M Peifer, L Fernández-Cuesta, ML Sos, J George, D Seidel, LH Kasper, ... Nature genetics 44 (10), 1104-1110, 2012 | 1002 | 2012 |
A three-dimensional model of the yeast genome Z Duan, M Andronescu, K Schutz, S McIlwain, YJ Kim, C Lee, J Shendure, ... Nature 465 (7296), 363-367, 2010 | 915 | 2010 |
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants W Fu, TD O’connor, G Jun, HM Kang, G Abecasis, SM Leal, S Gabriel, ... Nature 493 (7431), 216-220, 2013 | 886 | 2013 |
Advanced sequencing technologies: methods and goals J Shendure, RD Mitra, C Varma, GM Church Nature Reviews Genetics 5 (5), 335-344, 2004 | 726 | 2004 |