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Shane A. McCarthy
Shane A. McCarthy
Verificeret mail på sanger.ac.uk
Titel
Citeret af
Citeret af
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A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
150152015
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
83012012
Twelve years of SAMtools and BCFtools
P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ...
Gigascience 10 (2), giab008, 2021
57632021
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics 48 (10), 1279-1283, 2016
29432016
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
23942015
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
15812021
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
15722020
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
15522016
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
10922015
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
8182012
YaHS: yet another Hi-C scaffolding tool
C Zhou, SA McCarthy, R Durbin
Bioinformatics 39 (1), btac808, 2023
6742023
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
6582023
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
6312020
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
5992017
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
5482015
Twelve years of SAMtools and BCFtools. Gigascience 10: giab008
P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ...
5242021
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
4442014
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
4202013
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
4122015
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
3592016
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Artikler 1–20