| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 14571* | 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 | 12543 | 2011 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8743 | 2010 |
| 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 | 2345 | 2015 |
| 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 | 1358 | 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 | 1273 | 2011 |
| Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding KJ McKernan, HE Peckham, GL Costa, SF McLaughlin, Y Fu, EF Tsung, ... Genome research 19 (9), 1527-1541, 2009 | 800 | 2009 |
| 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 | 783 | 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 | 706 | 2011 |
| Variation in genome-wide mutation rates within and between human families Nature genetics 43 (7), 712-714, 2011 | 684 | 2011 |
| Extensive sequencing of seven human genomes to characterize benchmark reference materials JM Zook, D Catoe, J McDaniel, L Vang, N Spies, A Sidow, Z Weng, Y Liu, ... Scientific data 3 (1), 1-26, 2016 | 664 | 2016 |
| Classic selective sweeps were rare in recent human evolution RD Hernandez, JL Kelley, E Elyashiv, SC Melton, A Auton, G McVean, ... science 331 (6019), 920-924, 2011 | 538 | 2011 |
| Progress in ion torrent semiconductor chip based sequencing B Merriman, IT R&D Team, JM Rothberg Electrophoresis 33 (23), 3397-3417, 2012 | 462 | 2012 |
| Establishing guidelines to harmonize tumor mutational burden (TMB): in silico assessment of variation in TMB quantification across diagnostic platforms: phase I of the Friends … DM Merino, LM McShane, D Fabrizio, V Funari, SJ Chen, White JR, ... J Immunother Cancer 8 (1), 147, 2020 | 376 | 2020 |
| Large scale real-time PCR validation on gene expression measurements from two commercial long-oligonucleotide microarrays Y Wang, C Barbacioru, F Hyland, W Xiao, KL Hunkapiller, J Blake, F Chan, ... BMC genomics 7, 1-16, 2006 | 364 | 2006 |
| A second-generation combined linkage–physical map of the human genome TC Matise, F Chen, W Chen, M Francisco, M Hansen, C He, FCL Hyland, ... Genome research 17 (12), 1783-1786, 2007 | 353 | 2007 |
| Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences GD Poznik, Y Xue, FL Mendez, TF Willems, A Massaia, MA Wilson Sayres, ... Nature genetics 48 (6), 593-599, 2016 | 349 | 2016 |
| A comprehensive map of mobile element insertion polymorphisms in humans C Stewart, D Kural, MP Strömberg, JA Walker, MK Konkel, AM Stütz, ... PLoS genetics 7 (8), e1002236, 2011 | 325 | 2011 |
| Deleterious-and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing Y Xue, Y Chen, Q Ayub, N Huang, EV Ball, M Mort, AD Phillips, K Shaw, ... The American Journal of Human Genetics 91 (6), 1022-1032, 2012 | 316 | 2012 |
| SNPs for a universal individual identification panel AJ Pakstis, WC Speed, R Fang, FCL Hyland, MR Furtado, JR Kidd, ... Human genetics 127, 315-324, 2010 | 270 | 2010 |
