Shane A. McCarthy
Title
Cited by
Cited by
Year
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
7963*2015
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
69512012
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
14842015
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
14652016
The UK10K project identifies rare variants in health and disease
UK10K consortium
Nature 526 (7571), 82, 2015
7582015
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
6892012
Reference-based phasing using the Haplotype Reference Consortium panel
PR Loh, P Danecek, PF Palamara, C Fuchsberger, YA Reshef, ...
Nature genetics 48 (11), 1443, 2016
6792016
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), 2013
3592013
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
3262015
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
3162017
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
2902014
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
2572015
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
2482016
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
2192016
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
1642012
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
1432016
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
1102017
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
1082020
BCFtools/csq: haplotype-aware variant consequences
P Danecek, SA McCarthy
Bioinformatics 33 (13), 2037-2039, 2017
1022017
Whole-genome sequence-based analysis of thyroid function
PN Taylor, E Porcu, S Chew, PJ Campbell, M Traglia, SJ Brown, ...
Nature communications 6 (1), 1-11, 2015
812015
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