| PLINK: a tool set for whole-genome association and population-based linkage analyses S Purcell, B Neale, K Todd-Brown, L Thomas, MAR Ferreira, D Bender, ... The American journal of human genetics 81 (3), 559-575, 2007 | 34388 | 2007 |
| The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data A McKenna, M Hanna, E Banks, A Sivachenko, K Cibulskis, A Kernytsky, ... Genome research 20 (9), 1297-1303, 2010 | 26678 | 2010 |
| Haploview: analysis and visualization of LD and haplotype maps JC Barrett, B Fry, J Maller, MJ Daly Bioinformatics 21 (2), 263-265, 2005 | 16034 | 2005 |
| A framework for variation discovery and genotyping using next-generation DNA sequencing data MA DePristo, E Banks, R Poplin, KV Garimella, JR Maguire, C Hartl, ... Nature genetics 43 (5), 491-498, 2011 | 12254 | 2011 |
| PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes VK Mootha, CM Lindgren, KF Eriksson, A Subramanian, S Sihag, J Lehar, ... Nature genetics 34 (3), 267-273, 2003 | 10754 | 2003 |
| Analysis of protein-coding genetic variation in 60,706 humans M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ... Nature 536 (7616), 285-291, 2016 | 10670 | 2016 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8977 | 2010 |
| Initial sequencing and comparative analysis of the mouse genome European Bioinformatics Institute: Birney Ewan 3 Goldman Nick 3 Kasprzyk ... Nature 420 (6915), 520-562, 2002 | 8768 | 2002 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8586 | 2012 |
| MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations ES Lander, P Green, J Abrahamson, A Barlow, MJ Daly, SE Lincoln, ... Genomics 1 (2), 174-181, 1987 | 8333 | 1987 |
| The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... Nature 581 (7809), 434-443, 2020 | 8321 | 2020 |
| Biological insights from 108 schizophrenia-associated genetic loci C Pantelis, GN Papadimitriou, S Papiol, E Parkhomenko, MT Pato, ... Nature 511 (7510), 421-427, 2014 | 7756 | 2014 |
| The structure of haplotype blocks in the human genome SB Gabriel, SF Schaffner, H Nguyen, JM Moore, J Roy, B Blumenstiel, ... science 296 (5576), 2225-2229, 2002 | 6848 | 2002 |
| The international HapMap project RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu, HM Yang, ... Nature Publishing Group, 2003 | 6442 | 2003 |
| A second generation human haplotype map of over 3.1 million SNPs IHM Consortium Nature 449 (7164), 851, 2007 | 5464* | 2007 |
| Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease L Jostins, S Ripke, RK Weersma, RH Duerr, DP McGovern, KY Hui, ... Nature 491 (7422), 119-124, 2012 | 5446 | 2012 |
| Common polygenic variation contributes to risk of schizophrenia and bipolar disorder International Schizophrenia Consortium Manuscript preparation Purcell Shaun ... Nature 460 (7256), 748-752, 2009 | 5384 | 2009 |
| A haplotype map of the human genome International HapMap Consortium Nature 437 (7063), 1299, 2005 | 5035 | 2005 |
| LD Score regression distinguishes confounding from polygenicity in genome-wide association studies BK Bulik-Sullivan, PR Loh, HK Finucane, S Ripke, J Yang, ... Nature genetics 47 (3), 291-295, 2015 | 4961 | 2015 |
| A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms International SNP Map Working Group Cold Spring Harbor Laboratories ... Nature 409 (6822), 928-933, 2001 | 4496 | 2001 |
