| A global reference for human genetic variation. 1000 Genomes Project Consortium Nature 526 (7571), 68-74, 2015 | 8922 | 2015 |
| A map of human genome variation from population scale sequencing GP Consortium Nature 467 (7319), 1061-1073, 2010 | 7578* | 2010 |
| The variant call format and VCFtools P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ... Bioinformatics 27 (15), 2156-2158, 2011 | 7453 | 2011 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56-65, 2012 | 7184 | 2012 |
| An integrated map of structural variation in 2,504 human genomes. PH Sudmant, T Rausch, EJ Gardner, RE Handsaker, A Abyzov, ... Nature 526 (7571), 75-81, 2015 | 1624 | 2015 |
| A systematic survey of loss-of-function variants in human protein-coding genes DG MacArthur, S Balasubrmanian, A Frankish, N Huang, J Morris, ... Science 335 (6070), 823-828, 2012 | 1158 | 2012 |
| Mapping copy number variation by population-scale genome sequencing RE Mills, K Walter, C Stewart, RE Handsaker, K Chen, C Alkan, A Abyzov, ... Nature 470 (7332), 59-65, 2011 | 1106 | 2011 |
| A coalescent-based method for detecting and estimating recombination from gene sequences G McVean, P Awadalla, P Fearnhead Genetics 160 (3), 1231-1241, 2002 | 757 | 2002 |
| Diversity of human copy number variation and multicopy genes PH Sudmant, JO Kitzman, F Antonacci, C Alkan, M Malig, A Tsalenko, ... Science 330 (6004), 641-646, 2010 | 660 | 2010 |
| Demographic history and rare allele sharing among human populations S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ... Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011 | 591 | 2011 |
| Variation in genome-wide mutation rates within and between human families DF Conrad, JEM Keebler, MA DePristo, SJ Lindsay, Y Zhang, F Casals, ... Nature Genetics 43 (7), 712-714, 2011 | 591 | 2011 |
| Pan-cancer analysis of whole genomes. PCAWG Consortium Nature 578 (7793), 82-93, 2020 | 582* | 2020 |
| Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. A global reference for human genetic variation Genomes Project Consortium Nature 526 (7571), 68-74, 2015 | 550 | 2015 |
| Genomewide association studies: history, rationale, and prospects for psychiatric disorders Psychiatric GWAS Consortium Coordinating Committee American Journal of Psychiatry 166 (5), 540-556, 2009 | 542 | 2009 |
| Classic selective sweeps were rare in recent human evolution RD Hernandez, JL Kelley, E Elyashiv, S Melton, A Auton, G McVean, ... Science 331 (6019), 920-924, 2011 | 465 | 2011 |
| Linkage disequilibrium and recombination in hominid mitochondrial DNA P Awadalla, A Eyre-Walker, JM Smith Science 286 (5449), 2524-2525, 1999 | 426 | 1999 |
| Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus W Yang, N Shen, DQ Ye, Q Liu, Y Zhang, XX Qian, N Hirankarn, D Ying, ... PLoS genetics 6 (2), e1000841, 2010 | 412 | 2010 |
| Prediction of acute myeloid leukaemia risk in healthy individuals S Abelson, G Collord, SWK Ng, O Weissbrod, NM Cohen, E Niemeyer, ... Nature 559 (7714), 400-404, 2018 | 411 | 2018 |
| De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia J Gauthier, N Champagne, RG Lafrenière, L Xiong, D Spiegelman, ... Proceedings of the National Academy of Sciences 107 (17), 7863-7868, 2010 | 382 | 2010 |
| Integrative annotation of variants from 1092 humans: application to cancer genomics E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ... Science 342 (6154), 1235587, 2013 | 372 | 2013 |
