Initial sequencing and analysis of the human genome US DOE Joint Genome Institute: Hawkins Trevor 4 Branscomb Elbert 4 Predki ... nature 409 (6822), 860-921, 2001 | 30678 | 2001 |
Finding the missing heritability of complex diseases TA Manolio, FS Collins, NJ Cox, DB Goldstein, LA Hindorff, DJ Hunter, ... Nature 461 (7265), 747-753, 2009 | 9804 | 2009 |
A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8801 | 2010 |
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8283 | 2012 |
A draft sequence of the Neandertal genome RE Green, J Krause, AW Briggs, T Maricic, U Stenzel, M Kircher, ... science 328 (5979), 710-722, 2010 | 4965 | 2010 |
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ... Neuron 72 (2), 257-268, 2011 | 4773 | 2011 |
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data CS Chin, DH Alexander, P Marks, AA Klammer, J Drake, C Heiner, ... Nature methods 10 (6), 563-569, 2013 | 4310 | 2013 |
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ... The American Journal of Human Genetics 86 (5), 749-764, 2010 | 3154 | 2010 |
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution Project management: Fulton Lucinda A. 1 Mardis Elaine R. 1 Wilson Richard K. 1 Nature 432 (7018), 695-716, 2004 | 2919 | 2004 |
Targeted capture and massively parallel sequencing of 12 human exomes SB Ng, EH Turner, PD Robertson, SD Flygare, AW Bigham, C Lee, ... Nature 461 (7261), 272-276, 2009 | 2645 | 2009 |
The contribution of de novo coding mutations to autism spectrum disorder I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ... Nature 515 (7526), 216-221, 2014 | 2585 | 2014 |
Genome sequence of the Brown Norway rat yields insights into mammalian evolution University of Utah Weiss Robert B. 14 Dunn Diane M. 14, ... Nature 428 (6982), 493-521, 2004 | 2526 | 2004 |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ... Nature 485 (7397), 246-250, 2012 | 2406 | 2012 |
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 | 2388 | 2015 |
The complete genome sequence of a Neanderthal from the Altai Mountains K Prüfer, F Racimo, N Patterson, F Jay, S Sankararaman, S Sawyer, ... Nature 505 (7481), 43-49, 2014 | 2379 | 2014 |
Initial sequence of the chimpanzee genome and comparison with the human genome Chimpanzee Sequencing and Analysis Consortium Waterson Robert H. waterston ... Nature 437 (7055), 69-87, 2005 | 2309 | 2005 |
Genetic history of an archaic hominin group from Denisova Cave in Siberia D Reich, RE Green, M Kircher, J Krause, N Patterson, EY Durand, B Viola, ... Nature 468 (7327), 1053-1060, 2010 | 2260 | 2010 |
A high-coverage genome sequence from an archaic Denisovan individual M Meyer, M Kircher, MT Gansauge, H Li, F Racimo, S Mallick, ... Science 338 (6104), 222-226, 2012 | 2144 | 2012 |
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia T Walsh, JM McClellan, SE McCarthy, AM Addington, SB Pierce, ... science 320 (5875), 539-543, 2008 | 2136 | 2008 |
Missing heritability and strategies for finding the underlying causes of complex disease EE Eichler, J Flint, G Gibson, A Kong, SM Leal, JH Moore, JH Nadeau Nature reviews genetics 11 (6), 446-450, 2010 | 2042 | 2010 |