| 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 | 23130 | 2009 |
| Fast and accurate short read alignment with Burrows–Wheeler transform H Li, R Durbin bioinformatics 25 (14), 1754-1760, 2009 | 21887 | 2009 |
| Initial sequencing and analysis of the human genome ES Lander, LM Linton, B Birren, C Nusbaum, MC Zody, J Baldwin, ... Macmillan Publishers Ltd., 2001 | 18830 | 2001 |
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| A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 6712 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 6204 | 2012 |
| Fast and accurate long-read alignment with Burrows–Wheeler transform H Li, R Durbin Bioinformatics 26 (5), 589-595, 2010 | 5865 | 2010 |
| Initial sequencing and analysis of the human genome International Human Genome Sequencing Consortium Nature 409, 860-921, 2001 | 5762 | 2001 |
| The variant call format and VCFtools P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ... Bioinformatics 27 (15), 2156-2158, 2011 | 4446 | 2011 |
| 1000 Genome Project Data Processing Subgroup. 2009. 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 | 4397 | 2009 |
| 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 | 3627 | 2008 |
| The Pfam protein families database A Bateman, L Coin, R Durbin, RD Finn, V Hollich, S Griffiths‐Jones, ... Nucleic acids research 32 (suppl_1), D138-D141, 2004 | 3502 | 2004 |
| 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 | 3385 | 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 | 2927 | 2008 |
| Ensembl 2012 P Flicek, MR Amode, D Barrell, K Beal, S Brent, D Carvalho-Silva, ... Nucleic acids research 40 (D1), D84-D90, 2012 | 2799 | 2012 |
| 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 | 2428 | 2002 |
| 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 | 2347 | 2006 |
| Genome sequence of the Brown Norway rat yields insights into mammalian evolution RA Gibbs, GM Weinstock, ML Metzker, DM Muzny, EJ Sodergren, ... Nature 428 (6982), 493-520, 2004 | 2088 | 2004 |
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| The Ensembl genome database project T Hubbard, D Barker, E Birney, G Cameron, Y Chen, L Clark, T Cox, J Cuff, ... Nucleic acids research 30 (1), 38-41, 2002 | 1526 | 2002 |
Heng LiDana-Farber Cancer Institute & Harvard UniversityVerified email at jimmy.harvard.edu
