A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 12193 | 2015 |
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 7883 | 2012 |
A reference panel of 64,976 haplotypes for genotype imputation Nature genetics 48 (10), 1279-1283, 2016 | 2380 | 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 | 2042 | 2015 |
Twelve years of SAMtools and BCFtools P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ... Gigascience 10 (2), giab008, 2021 | 1972 | 2021 |
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 | 1199 | 2016 |
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 | 991 | 2015 |
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 | 770 | 2012 |
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 | 618 | 2020 |
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 | 580 | 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 | 466 | 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 | 435 | 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 | 408 | 2013 |
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 | 390 | 2014 |
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 | 387 | 2020 |
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 | 347 | 2015 |
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 | 309 | 2016 |
Health and population effects of rare gene knockouts in adult humans with related parents VM Narasimhan, KA Hunt, D Mason, CL Baker, KJ Karczewski, ... Science 352 (6284), 474-477, 2016 | 279 | 2016 |
BCFtools/csq: haplotype-aware variant consequences P Danecek, SA McCarthy Bioinformatics 33 (13), 2037-2039, 2017 | 233 | 2017 |
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ... Nature communications 7 (1), 11491, 2016 | 217 | 2016 |