An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature 489 (7414), 57, 2012 | 11624 | 2012 |
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 6823 | 2012 |
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project ENCODE Project Consortium nature 447 (7146), 799, 2007 | 5289 | 2007 |
Finishing the euchromatic sequence of the human genome International Human Genome Sequencing Consortium Nature 431 (7011), 931, 2004 | 4130 | 2004 |
GENCODE: the reference human genome annotation for The ENCODE Project J Harrow, A Frankish, JM Gonzalez, E Tapanari, M Diekhans, ... Genome research 22 (9), 1760-1774, 2012 | 3883 | 2012 |
Ensembl 2018 DR Zerbino, P Achuthan, W Akanni, MR Amode, D Barrell, J Bhai, K Billis, ... Nucleic acids research 46 (D1), D754-D761, 2018 | 2020 | 2018 |
A user's guide to the encyclopedia of DNA elements (ENCODE) ENCODE Project Consortium PLoS biol 9 (4), e1001046, 2011 | 1217 | 2011 |
The DNA sequence of the human X chromosome MT Ross, DV Grafham, AJ Coffey, S Scherer, K McLay, D Muzny, ... Nature 434 (7031), 325-337, 2005 | 1159 | 2005 |
A systematic survey of loss-of-function variants in human protein-coding genes DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ... Science 335 (6070), 823-828, 2012 | 1078 | 2012 |
GENCODE reference annotation for the human and mouse genomes A Frankish, M Diekhans, AM Ferreira, R Johnson, I Jungreis, J Loveland, ... Nucleic acids research 47 (D1), D766-D773, 2019 | 760 | 2019 |
GENCODE: producing a reference annotation for ENCODE J Harrow, F Denoeud, A Frankish, A Reymond, CK Chen, J Chrast, ... Genome biology 7 (1), 1-9, 2006 | 619 | 2006 |
Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes I Ezkurdia, D Juan, JM Rodriguez, A Frankish, M Diekhans, J Harrow, ... Human molecular genetics 23 (22), 5866-5878, 2014 | 590 | 2014 |
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes KD Pruitt, J Harrow, RA Harte, C Wallin, M Diekhans, DR Maglott, ... Genome research 19 (7), 1316-1323, 2009 | 554 | 2009 |
Ensembl 2019 F Cunningham, P Achuthan, W Akanni, J Allen, MR Amode, IM Armean, ... Nucleic acids research 47 (D1), D745-D751, 2019 | 462 | 2019 |
The DNA sequence and analysis of human chromosome 6 AJ Mungall, SA Palmer, SK Sims, CA Edwards, JL Ashurst, L Wilming, ... Nature 425 (6960), 805-811, 2003 | 415 | 2003 |
Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus W Yang, N Shen, DQ Ye, Q Liu, Y Zhang, XX Qian, N Hirankarn, D Ying, ... PLoS Genet 6 (2), e1000841, 2010 | 394 | 2010 |
The DNA sequence and biological annotation of human chromosome 1 SG Gregory, KF Barlow, KE McLay, R Kaul, D Swarbreck, A Dunham, ... Nature 441 (7091), 315-321, 2006 | 377 | 2006 |
Ensembl 2020 AD Yates, P Achuthan, W Akanni, J Allen, J Allen, J Alvarez-Jarreta, ... Nucleic acids research 48 (D1), D682-D688, 2020 | 376 | 2020 |
Integrative annotation of variants from 1092 humans: application to cancer genomics E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ... Science 342 (6154), 2013 | 357 | 2013 |
The GENCODE pseudogene resource B Pei, C Sisu, A Frankish, C Howald, L Habegger, XJ Mu, R Harte, ... Genome biology 13 (9), 1-26, 2012 | 287 | 2012 |