| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 16326 | 2015 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8600 | 2012 |
| Twelve years of SAMtools and BCFtools P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ... Gigascience 10 (2), giab008, 2021 | 8244 | 2021 |
| A reference panel of 64,976 haplotypes for genotype imputation Nature genetics 48 (10), 1279-1283, 2016 | 3187 | 2016 |
| 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 | 2552 | 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 | 2086 | 2021 |
| Identifying and removing haplotypic duplication in primary genome assemblies D Guan, SA McCarthy, J Wood, K Howe, Y Wang, R Durbin Bioinformatics 36 (9), 2896-2898, 2020 | 2070 | 2020 |
| Reference-based phasing using the Haplotype Reference Consortium panel PR Loh, P Danecek, PF Palamara, C Fuchsberger, Y A Reshef, ... Nature genetics 48 (11), 1443-1448, 2016 | 1732 | 2016 |
| YaHS: yet another Hi-C scaffolding tool C Zhou, SA McCarthy, R Durbin Bioinformatics 39 (1), btac808, 2023 | 1145 | 2023 |
| The UK10K project identifies rare variants in health and disease Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ... Nature 526 (7571), 82-90, 2015 | 1138 | 2015 |
| MitoHiFi: a python pipeline for mitochondrial genome assembly from PacBio high fidelity reads M Uliano-Silva, JGRN Ferreira, K Krasheninnikova, G Formenti, L Abueg, ... BMC bioinformatics 24 (1), 288, 2023 | 1045 | 2023 |
| Insights into hominid evolution from the gorilla genome sequence A Scally, JY Dutheil, LDW Hillier, GE Jordan, I Goodhead, J Herrero, ... Nature 483 (7388), 169-175, 2012 | 843 | 2012 |
| Insights into human genetic variation and population history from 929 diverse genomes A Bergström, SA McCarthy, R Hui, MA Almarri, Q Ayub, P Danecek, ... Science 367 (6484), eaay5012, 2020 | 775 | 2020 |
| Twelve years of SAMtools and BCFtools. Gigascience 10: giab008 P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ... | 770 | 2021 |
| Common genetic variation drives molecular heterogeneity in human iPSCs H Kilpinen, A Goncalves, A Leha, V Afzal, K Alasoo, S Ashford, S Bala, ... Nature 546 (7658), 370-375, 2017 | 640 | 2017 |
| Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture HF Zheng, V Forgetta, YH Hsu, K Estrada, A Rosello‐Diez, PJ Leo, ... Nature 526 (7571), 112-117, 2015 | 581 | 2015 |
| 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 | 467 | 2014 |
| Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015 | 446 | 2015 |
| 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 |
| BCFtools/csq: haplotype-aware variant consequences P Danecek, SA McCarthy Bioinformatics 33 (13), 2037-2039, 2017 | 380 | 2017 |