| The international HapMap project RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu, HM Yang, ... Nature Publishing Group, 2003 | 6401 | 2003 |
| A haplotype map of the human genome TIHM Consortium Nature 437, 1299-1320, 2005 | 6351* | 2005 |
| A second generation human haplotype map of over 3.1 million SNPs International HapMap Consortium Nature 449 (7164), 851, 2007 | 5439 | 2007 |
| The repertoire of mutational signatures in human cancer LB Alexandrov, J Kim, NJ Haradhvala, MN Huang, AW Tian Ng, Y Wu, ... Nature 578 (7793), 94-101, 2020 | 2784 | 2020 |
| 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 | 2300 | 2007 |
| Pan-cancer analysis of whole genomes TITPCAWG Consortium Nature 578 (7793), 82-93, 2020 | 1953* | 2020 |
| Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease W Satake, Y Nakabayashi, I Mizuta, Y Hirota, C Ito, M Kubo, T Kawaguchi, ... Nature genetics 41 (12), 1303-1307, 2009 | 1581 | 2009 |
| Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis A Suzuki, R Yamada, X Chang, S Tokuhiro, T Sawada, M Suzuki, ... Nature genetics 34 (4), 395-402, 2003 | 1435 | 2003 |
| Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction K Ozaki, Y Ohnishi, A Iida, A Sekine, R Yamada, T Tsunoda, H Sato, ... Nature genetics 32 (4), 650-654, 2002 | 1280 | 2002 |
| Integrated molecular analysis of clear-cell renal cell carcinoma Y Sato, T Yoshizato, Y Shiraishi, S Maekawa, Y Okuno, T Kamura, ... Nature genetics 45 (8), 860-867, 2013 | 1226 | 2013 |
| Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators A Fujimoto, Y Totoki, T Abe, KA Boroevich, F Hosoda, HH Nguyen, M Aoki, ... Nature genetics 44 (7), 760-764, 2012 | 986 | 2012 |
| The evolutionary history of 2,658 cancers M Gerstung, C Jolly, I Leshchiner, SC Dentro, S Gonzalez, D Rosebrock, ... Nature 578 (7793), 122-128, 2020 | 974 | 2020 |
| SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations H Unoki, A Takahashi, T Kawaguchi, K Hara, M Horikoshi, G Andersen, ... Nature genetics 40 (9), 1098-1102, 2008 | 881 | 2008 |
| Toward information extraction: identifying protein names from biological papers K Fukuda, T Tsunoda, A Tamura, T Takagi Pac symp biocomput 707 (18), 707-718, 1998 | 803 | 1998 |
| Patterns of somatic structural variation in human cancer genomes Y Li, ND Roberts, JA Wala, O Shapira, SE Schumacher, K Kumar, ... Nature 578 (7793), 112-121, 2020 | 784 | 2020 |
| Genome-wide analysis of gene expression in human hepatocellular carcinomas using cDNA microarray: identification of genes involved in viral carcinogenesis and tumor progression H Okabe, S Satoh, T Kato, O Kitahara, R Yanagawa, Y Yamaoka, ... Cancer research 61 (5), 2129-2137, 2001 | 736 | 2001 |
| An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis S Tokuhiro, R Yamada, X Chang, A Suzuki, Y Kochi, T Sawada, M Suzuki, ... Nature genetics 35 (4), 341-348, 2003 | 718 | 2003 |
| Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer A Fujimoto, M Furuta, Y Totoki, T Tsunoda, M Kato, Y Shiraishi, H Tanaka, ... Nature genetics 48 (5), 500-509, 2016 | 711 | 2016 |
| Meta-analysis identifies six new susceptibility loci for atrial fibrillation PT Ellinor, KL Lunetta, CM Albert, NL Glazer, MD Ritchie, AV Smith, ... Nature genetics 44 (6), 670-675, 2012 | 696 | 2012 |
| Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing I Cortés-Ciriano, JJK Lee, R Xi, D Jain, YL Jung, L Yang, D Gordenin, ... Nature genetics 52 (3), 331-341, 2020 | 612 | 2020 |
