| A second generation human haplotype map of over 3.1 million SNPs International HapMap Consortium Nature 449 (7164), 851, 2007 | 9335* | 2007 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8738 | 2010 |
| Initial sequencing and comparative analysis of the mouse genome MGS Consortium Nature 420 (6915), 520-562, 2002 | 8576* | 2002 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8231 | 2012 |
| The genotype-tissue expression (GTEx) project J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo, S Shad, R Hasz, ... Nature genetics 45 (6), 580-585, 2013 | 7499 | 2013 |
| Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project Management Group Liefer Laura A. 51 Wetterstrand Kris A. 51 Good Peter J. 51 ... nature 447 (7146), 799-816, 2007 | 5995 | 2007 |
| The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans GTEx Consortium, KG Ardlie, DS Deluca, AV Segrè, TJ Sullivan, ... Science 348 (6235), 648-660, 2015 | 4530 | 2015 |
| Genetic effects on gene expression across human tissues GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ... Nature 550 (7675), 204-213, 2017 | 3309 | 2017 |
| Integrating common and rare genetic variation in diverse human populations International HapMap 3 Consortium Nature 467 (7311), 52, 2010 | 3142 | 2010 |
| The GTEx Consortium atlas of genetic regulatory effects across human tissues GTEx Consortium Science 369 (6509), 1318-1330, 2020 | 2430 | 2020 |
| The ENCODE (ENCyclopedia of DNA elements) project EA Feingold, PJ Good, MS Guyer, S Kamholz, L Liefer, K Wetterstrand, ... Science 306 (5696), 636-640, 2004 | 2362 | 2004 |
| Genome-wide detection and characterization of positive selection in human populations PC Sabeti, P Varilly, B Fry, J Lohmueller, E Hostetter, C Cotsapas, X Xie, ... Nature 449 (7164), 913-918, 2007 | 2196 | 2007 |
| Relative impact of nucleotide and copy number variation on gene expression phenotypes BE Stranger, MS Forrest, M Dunning, CE Ingle, C Beazley, N Thorne, ... Science 315 (5813), 848-853, 2007 | 2066 | 2007 |
| Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ... Nature 501 (7468), 506-511, 2013 | 2039 | 2013 |
| Common variants near MC4R are associated with fat mass, weight and risk of obesity RJF Loos, CM Lindgren, S Li, E Wheeler, JH Zhao, I Prokopenko, ... Nature genetics 40 (6), 768-775, 2008 | 1564 | 2008 |
| Population genomics of human gene expression BE Stranger, AC Nica, MS Forrest, A Dimas, CP Bird, C Beazley, CE Ingle, ... Nature genetics 39 (10), 1217-1224, 2007 | 1376 | 2007 |
| A systematic survey of loss-of-function variants in human protein-coding genes DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ... Science 335 (6070), 823-828, 2012 | 1357 | 2012 |
| The human transcriptome across tissues and individuals M Melé, PG Ferreira, F Reverter, DS DeLuca, J Monlong, M Sammeth, ... Science 348 (6235), 660-665, 2015 | 1304 | 2015 |
| A haplotype map of the human genome D Altshuler Nature 437, 1299-1320, 2005 | 1187 | 2005 |
| Transcriptome genetics using second generation sequencing in a Caucasian population SB Montgomery, M Sammeth, M Gutierrez-Arcelus, RP Lach, C Ingle, ... Nature 464 (7289), 773-777, 2010 | 998 | 2010 |
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical SchoolVerified email at unige.ch
