| Heart disease and stroke statistics—2017 update: a report from the American Heart Association EJ Benjamin, MJ Blaha, SE Chiuve, M Cushman, SR Das, R Deo, ... circulation 135 (10), e146-e603, 2017 | 47442* | 2017 |
| 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 | 24325 | 2010 |
| EGFR Mutations in Lung Cancer: Correlation with Clinical Response to Gefitinib Therapy JG Paez, PA Janne, JC Lee, S Tracy, H Greulich, S Gabriel, P Herman, ... Science 304 (5676), 1497-1500, 2004 | 11936 | 2004 |
| 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 | 11536 | 2011 |
| Comprehensive molecular portraits of human breast tumours Brigham & Women’s Hospital & Harvard Medical School Chin Lynda 9 11 Park ... Nature 490 (7418), 61-70, 2012 | 11012 | 2012 |
| 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 | 10153 | 2016 |
| A second generation human haplotype map of over 3.1 million SNPs International HapMap Consortium Nature 449 (7164), 851, 2007 | 9333* | 2007 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8737 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8228 | 2012 |
| Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1 RGW Verhaak, KA Hoadley, E Purdom, V Wang, Y Qi, MD Wilkerson, ... Cancer cell 17 (1), 98-110, 2010 | 7807 | 2010 |
| The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity J Barretina, G Caponigro, N Stransky, K Venkatesan, AA Margolin, S Kim, ... Nature 483 (7391), 603-607, 2012 | 7704 | 2012 |
| Comprehensive molecular characterization of human colon and rectal cancer Cancer Genome Atlas Network Nature 487 (7407), 330, 2012 | 7378 | 2012 |
| Comprehensive genomic characterization defines human glioblastoma genes and core pathways Cancer Genome Atlas Research Network Tissue source sites: Duke University ... Nature 455 (7216), 1061-1068, 2008 | 7313 | 2008 |
| 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 | 6967 | 2020 |
| 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 | 6715 | 2002 |
| The international HapMap project RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu, HM Yang, ... Nature Publishing Group, 2003 | 6190 | 2003 |
| Mutational heterogeneity in cancer and the search for new cancer-associated genes MS Lawrence, P Stojanov, P Polak, GV Kryukov, K Cibulskis, ... Nature 499 (7457), 214-218, 2013 | 5736 | 2013 |
| From FastQ data to high‐confidence variant calls: the genome analysis toolkit best practices pipeline GA Van der Auwera, MO Carneiro, C Hartl, R Poplin, G Del Angel, ... Current protocols in bioinformatics 43 (1), 11.10. 1-11.10. 33, 2013 | 5367 | 2013 |
| Common polygenic variation contributes to risk of schizophrenia and bipolar disorder International Schizophrenia Consortium Manuscript preparation Purcell Shaun ... Nature 460 (7256), 748-752, 2009 | 5185 | 2009 |
| Comprehensive molecular characterization of gastric adenocarcinoma Cancer Genome Atlas Research Network Nature 513 (7517), 202, 2014 | 5081 | 2014 |
