| 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 | 54254 | 2009 |
| Fast and accurate short read alignment with Burrows–Wheeler transform H Li, R Durbin bioinformatics 25 (14), 1754-1760, 2009 | 44406 | 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 | 30512 | 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 | 12568 | 2011 |
| Fast and accurate long-read alignment with Burrows–Wheeler transform H Li, R Durbin Bioinformatics 26 (5), 589-595, 2010 | 11650 | 2010 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8747 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8256 | 2012 |
| Biological sequence analysis: probabilistic models of proteins and nucleic acids R Durbin, SR Eddy, A Krogh, G Mitchison Cambridge university press, 1998 | 8146 | 1998 |
| 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 | 6804 | 2002 |
| 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 | 5012 | 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 | 4702* | 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 | 4210 | 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 | 3496 | 2008 |
| A reference panel of 64,976 haplotypes for genotype imputation Nature genetics 48 (10), 1279-1283, 2016 | 2831 | 2016 |
| 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 | 2657 | 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 | 2514 | 2004 |
| GeneWise and genomewise E Birney, M Clamp, R Durbin Genome research 14 (5), 988-995, 2004 | 2502 | 2004 |
| Inference of human population history from individual whole-genome sequences H Li, R Durbin Nature 475 (7357), 493-496, 2011 | 2318 | 2011 |
| 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 | 1959 | 2002 |
| 2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans R Wilson, R Ainscough, K Anderson, C Baynes, M Berks, J Bonfield, ... Nature 368 (6466), 32-38, 1994 | 1843 | 1994 |
Heng LiDana-Farber Cancer Institute & Harvard University在 jimmy.harvard.edu 的电子邮件经过验证
