| The sequence alignment/map format and SAMtools H Li, B Handsaker, A Wysoker, T Fennell, J Ruan, N Homer, G Marth, ... bioinformatics 25 (16), 2078-2079, 2009 | 59317 | 2009 |
| Fast and accurate short read alignment with Burrows–Wheeler transform H Li, R Durbin bioinformatics 25 (14), 1754-1760, 2009 | 48818 | 2009 |
| 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 | 25392 | 2001 |
| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 16292 | 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 | 14437 | 2011 |
| Fast and accurate long-read alignment with Burrows–Wheeler transform H Li, R Durbin Bioinformatics 26 (5), 589-595, 2010 | 12593 | 2010 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8991 | 2010 |
| The Pfam protein families database A Bateman, E Birney, L Cerruti, R Durbin, L Etwiller, SR Eddy, ... Nucleic acids research 30 (1), 276-280, 2002 | 8723 | 2002 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8604 | 2012 |
| Biological sequence analysis: probabilistic models of proteins and nucleic acids R Durbin, SR Eddy, A Krogh, G Mitchison Cambridge university press, 1998 | 8268 | 1998 |
| Accurate whole human genome sequencing using reversible terminator chemistry DR Bentley, S Balasubramanian, HP Swerdlow, GP Smith, J Milton, ... nature 456 (7218), 53-59, 2008 | 5247 | 2008 |
| Ensembl 2014 P Flicek, MR Amode, D Barrell, K Beal, K Billis, S Brent, D Carvalho-Silva, ... Nucleic acids research 42 (D1), D749-D755, 2014 | 4761* | 2014 |
| Systematic functional analysis of the Caenorhabditis elegans genome using RNAi RS Kamath, AG Fraser, Y Dong, G Poulin, R Durbin, M Gotta, A Kanapin, ... Nature 421 (6920), 231-237, 2003 | 4322 | 2003 |
| Mapping short DNA sequencing reads and calling variants using mapping quality scores H Li, J Ruan, R Durbin Genome research 18 (11), 1851-1858, 2008 | 3558 | 2008 |
| A reference panel of 64,976 haplotypes for genotype imputation Nature genetics 48 (10), 1279-1283, 2016 | 3177 | 2016 |
| GeneWise and genomewise E Birney, M Clamp, R Durbin Genome research 14 (5), 988-995, 2004 | 2695 | 2004 |
| Pfam: clans, web tools and services RD Finn, J Mistry, B Schuster-Böckler, S Griffiths-Jones, V Hollich, ... Nucleic acids research 34 (suppl_1), D247-D251, 2006 | 2691 | 2006 |
| 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 | 2590 | 2004 |
| The complete sequence of a human genome S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze, A Mikheenko, ... Science 376 (6588), 44-53, 2022 | 2552 | 2022 |
| Inference of human population history from individual whole-genome sequences H Li, R Durbin Nature 475 (7357), 493-496, 2011 | 2530 | 2011 |
Heng LiDana-Farber Cancer Institute & Harvard UniversityVerified email at jimmy.harvard.edu