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Shane A. McCarthy
Shane A. McCarthy
Dirección de correo verificada de sanger.ac.uk
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Año
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
160152015
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
85552012
Twelve years of SAMtools and BCFtools
P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ...
Gigascience 10 (2), giab008, 2021
76072021
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics 48 (10), 1279-1283, 2016
31202016
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
25062015
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
20062021
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
19722020
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
16882016
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
11242015
YaHS: yet another Hi-C scaffolding tool
C Zhou, SA McCarthy, R Durbin
Bioinformatics 39 (1), btac808, 2023
10642023
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
9832023
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
8362012
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
7372020
Twelve years of SAMtools and BCFtools. Gigascience 10: giab008
P Danecek, JK Bonfield, J Liddle, J Marshall, V Ohan, MO Pollard, ...
7092021
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
6302017
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
5722015
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
4602014
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
4382015
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
4262013
BCFtools/csq: haplotype-aware variant consequences
P Danecek, SA McCarthy
Bioinformatics 33 (13), 2037-2039, 2017
3722017
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Artículos 1–20