| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 16381 | 2015 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8984 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8599 | 2012 |
| Haplotype-based variant detection from short-read sequencing E Garrison, G Marth arXiv preprint arXiv:1207.3907, 2012 | 4795* | 2012 |
| 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 | 2574 | 2022 |
| 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 | 2560 | 2015 |
| 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 | 2108 | 2021 |
| Pan-cancer analysis of whole genomes Nature 578 (7793), 82-93, 2020 | 1763 | 2020 |
| BamTools: a C++ API and toolkit for analyzing and managing BAM files DW Barnett, EK Garrison, AR Quinlan, MP Strömberg, GT Marth Bioinformatics 27 (12), 1691-1692, 2011 | 1032 | 2011 |
| Demographic history and rare allele sharing among human populations S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ... Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011 | 739 | 2011 |
| Variation graph toolkit improves read mapping by representing genetic variation in the reference E Garrison, J Sirén, AM Novak, G Hickey, JM Eizenga, ET Dawson, ... Nature biotechnology 36 (9), 875-879, 2018 | 667 | 2018 |
| A draft human pangenome reference WW Liao, M Asri, J Ebler, D Doerr, M Haukness, G Hickey, S Lu, JK Lucas, ... Nature 617 (7960), 312-324, 2023 | 617 | 2023 |
| SpeedSeq: ultra-fast personal genome analysis and interpretation C Chiang, RM Layer, GG Faust, MR Lindberg, DB Rose, EP Garrison, ... Nature methods 12 (10), 966, 2015 | 585 | 2015 |
| A global reference for human genetic variation GP Consortium, A Auton, LD Brooks, RM Durbin, EP Garrison, HM Kang Nature 526 (7571), 68-74, 2015 | 512 | 2015 |
| Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes K Shafin, T Pesout, R Lorig-Roach, M Haukness, HE Olsen, C Bosworth, ... Nature biotechnology 38 (9), 1044-1053, 2020 | 480 | 2020 |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel O Delaneau, J Marchini Nature communications 5 (1), 3934, 2014 | 469 | 2014 |
| 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), 1235587, 2013 | 427 | 2013 |
| Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences GD Poznik, Y Xue, FL Mendez, TF Willems, A Massaia, MA Wilson Sayres, ... Nature genetics 48 (6), 593-599, 2016 | 376 | 2016 |
| Computational pan-genomics: status, promises and challenges Briefings in bioinformatics 19 (1), 118-135, 2018 | 369 | 2018 |
| The Human Pangenome Project: a global resource to map genomic diversity T Wang, L Antonacci-Fulton, K Howe, HA Lawson, JK Lucas, AM Phillippy, ... Nature 604 (7906), 437-446, 2022 | 362 | 2022 |
