| An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature 489 (7414), 57, 2012 | 17575 | 2012 |
| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 16558 | 2015 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 9055 | 2010 |
| Initial sequencing and comparative analysis of the mouse genome European Bioinformatics Institute: Birney Ewan 3 Goldman Nick 3 Kasprzyk ... Nature 420 (6915), 520-562, 2002 | 8717 | 2002 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8634 | 2012 |
| The ensembl variant effect predictor W McLaren, L Gil, SE Hunt, HS Riat, GRS Ritchie, A Thormann, P Flicek, ... Genome biology 17, 1-14, 2016 | 7330 | 2016 |
| Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project Management Group Liefer Laura A. 51 Wetterstrand Kris A. 51 Good Peter J. 51 ... nature 447 (7146), 799-816, 2007 | 6059 | 2007 |
| The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 A Buniello, JAL MacArthur, M Cerezo, LW Harris, J Hayhurst, ... Nucleic acids research 47 (D1), D1005-D1012, 2019 | 4141 | 2019 |
| Genetic effects on gene expression across human tissues GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ... Nature 550 (7675), 204-213, 2017 | 3657 | 2017 |
| The GTEx Consortium atlas of genetic regulatory effects across human tissues GTEx Consortium Science 369 (6509), 1318-1330, 2020 | 3430 | 2020 |
| The NHGRI GWAS Catalog, a curated resource of SNP-trait associations D Welter, J MacArthur, J Morales, T Burdett, P Hall, H Junkins, A Klemm, ... Nucleic acids research 42 (D1), D1001-D1006, 2014 | 3394 | 2014 |
| Ensembl 2018 DR Zerbino, P Achuthan, W Akanni, MR Amode, D Barrell, J Bhai, K Billis, ... Nucleic acids research 46 (D1), D754-D761, 2018 | 3164 | 2018 |
| 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 | 2994 | 2019 |
| Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution LDW Hillier, W Miller, E Birney, W Warren, RC Hardison, CP Ponting, ... Nature 432 (7018), 695-716, 2004 | 2967 | 2004 |
| 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 | 2570 | 2015 |
| Pan-cancer analysis of whole genomes Nature 578 (7793), 82-93, 2020 | 2526* | 2020 |
| The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) J MacArthur, E Bowler, M Cerezo, L Gil, P Hall, E Hastings, H Junkins, ... Nucleic acids research 45 (D1), D896-D901, 2017 | 2418 | 2017 |
| Towards complete and error-free genome assemblies of all vertebrate species A Rhie, SA McCarthy, O Fedrigo, J Damas, G Formenti, S Koren, ... Nature 592 (7856), 737-746, 2021 | 2247 | 2021 |
| Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ... Nature 501 (7468), 506-511, 2013 | 2129 | 2013 |
| A comparative encyclopedia of DNA elements in the mouse genome F Yue, Y Cheng, A Breschi, J Vierstra, W Wu, T Ryba, R Sandstrom, Z Ma, ... Nature 515 (7527), 355-364, 2014 | 2020 | 2014 |