Shane A. McCarthy
Shane A. McCarthy
Adresse e-mail validée de sanger.ac.uk
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A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
88942015
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 2012
71792012
A reference panel of 64,976 haplotypes for genotype imputation
S McCarthy, S Das, W Kretzschmar, O Delaneau, AR Wood, A Teumer, ...
Nature genetics 48 (10), 1279, 2016
16802016
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
16232015
The UK10K project identifies rare variants in health and disease
UK10K consortium
Nature 526 (7571), 82, 2015
8142015
Reference-based phasing using the Haplotype Reference Consortium panel
PR Loh, P Danecek, PF Palamara, C Fuchsberger, YA Reshef, ...
Nature genetics 48 (11), 1443-1448, 2016
7822016
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
7162012
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
3732013
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
3522017
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
3522015
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 1-9, 2014
3132014
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), 1-9, 2015
2762015
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
GD Poznik, Y Xue, FL Mendez, TF Willems, A Massaia, MAW Sayres, ...
Nature genetics 48 (6), 593-599, 2016
2622016
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
2292016
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), 2020
1792020
A calibrated human Y-chromosomal phylogeny based on resequencing
W Wei, Q Ayub, Y Chen, S McCarthy, Y Hou, I Carbone, Y Xue, ...
Genome research, 2012
1722012
Twelve years of SAMtools and BCFtools
P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ...
Gigascience 10 (2), giab008, 2021
1562021
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), 1-13, 2016
1482016
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
1322021
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7
Y Luo, KM de Lange, L Jostins, L Moutsianas, J Randall, NA Kennedy, ...
Nature genetics 49 (2), 186-192, 2017
1322017
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