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Shane A. McCarthy
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Year
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
141342015
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
81782012
Twelve years of SAMtools and BCFtools
P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ...
Gigascience 10 (2), giab008, 2021
44172021
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics 48 (10), 1279-1283, 2016
28022016
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
23122015
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
14442016
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
12182020
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
12052021
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
10662015
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
8062012
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
5682017
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
5552020
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
5192015
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
4332014
YaHS: yet another Hi-C scaffolding tool
C Zhou, SA McCarthy, R Durbin
Bioinformatics 39 (1), btac808, 2023
4282023
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
4182023
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
4162013
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
3972015
Twelve years of SAMtools and BCFtools. Gigascience 10: giab008
P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ...
3682021
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
3442016
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