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Shane A. McCarthy
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Cited by
Year
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
119072015
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
78412012
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics 48 (10), 1279-1283, 2016
23132016
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
20032015
Twelve years of SAMtools and BCFtools
P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ...
Gigascience 10 (2), giab008, 2021
17182021
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
11532016
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
9792015
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
7622012
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
5412020
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
4972021
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
4472017
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
4262015
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
4022013
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
3812014
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
3632020
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
3422015
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
3072016
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
2732016
BCFtools/csq: haplotype-aware variant consequences
P Danecek, SA McCarthy
Bioinformatics 33 (13), 2037-2039, 2017
2292017
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
2132016
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