| A global reference for human genetic variation. 1000 Genomes Project Consortium Nature 526 (7571), 68-74, 2015 | 15532 | 2015 |
| The variant call format and VCFtools P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ... Bioinformatics 27 (15), 2156-2158, 2011 | 13549 | 2011 |
| A map of human genome variation from population scale sequencing GP Consortium Nature 467 (7319), 1061-1073, 2010 | 8872* | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8366 | 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 | 2457 | 2015 |
| Pan-cancer analysis of whole genomes. PCAWG Consortium Nature 578 (7793), 82-93, 2020 | 1885* | 2020 |
| A global reference for human genetic variation TGP Consortium Nature 526 (7571), 68-74, 2015 | 1462* | 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 | 1398 | 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 | 1301 | 2011 |
| Large-scale cis-and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression QTL consortium Nature Genetics, 1-11, 2021 | 956* | 2021 |
| Prediction of acute myeloid leukaemia risk in healthy individuals S Abelson, G Collord, SWK Ng, O Weissbrod, N Mendelson Cohen, ... Nature 559 (7714), 400-404, 2018 | 828 | 2018 |
| 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 | 811 | 2010 |
| A coalescent-based method for detecting and estimating recombination from gene sequences G McVean, P Awadalla, P Fearnhead Genetics 160 (3), 1231-1241, 2002 | 796 | 2002 |
| Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. Consortium, eQTL Nature Communications 9 (1), 2941, 2018 | 756 | 2018 |
| 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 | 727 | 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 | 693 | 2011 |
| Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences MR Team, QTL Consortium, IC Consortium Nature Genetics, 2019 | 643 | 2019 |
| Genomewide association studies: history, rationale, and prospects for psychiatric disorders Psychiatric GWAS Consortium Coordinating Committee American Journal of Psychiatry 166 (5), 540-556, 2009 | 603 | 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 | 533 | 2011 |
| Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis U Vősa, A Claringbould, HJ Westra, MJ Bonder, P Deelen, B Zeng, ... BioRxiv, 447367, 2018 | 507 | 2018 |
Gil McVeanProfessor of Statistical Genetics, University of OxfordVerified email at bdi.ox.ac.uk
