Articles avec mandats d'accès public - Richard DurbinEn savoir plus
Non disponible : 1
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Unraveling the influence of common von Willebrand factor variants on von Willebrand disease phenotype: an exploratory study on the molecular and clinical profile of von …
N Borràs, I Garcia-Martínez, J Batlle, A Pérez-Rodríguez, R Parra, ...
Thrombosis and Haemostasis 120 (03), 437-448, 2020
Exigences : Government of Spain
Disponibles quelque part : 185
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The sequence alignment/map format and SAMtools
H Li, B Handsaker, A Wysoker, T Fennell, J Ruan, N Homer, G Marth, ...
bioinformatics 25 (16), 2078-2079, 2009
Exigences : US National Institutes of Health
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The variant call format and VCFtools
P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ...
Bioinformatics 27 (15), 2156-2158, 2011
Exigences : US National Institutes of Health, British Heart Foundation
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A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
Exigences : Fonds national suisse, US National Institutes of Health, Howard Hughes …
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An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
Exigences : Fonds national suisse, US National Institutes of Health, Howard Hughes …
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Accurate whole human genome sequencing using reversible terminator chemistry
DR Bentley, S Balasubramanian, HP Swerdlow, GP Smith, J Milton, ...
nature 456 (7218), 53-59, 2008
Exigences : US National Institutes of Health
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Ensembl 2014
P Flicek, MR Amode, D Barrell, K Beal, K Billis, S Brent, D Carvalho-Silva, ...
Nucleic acids research 42 (D1), D749-D755, 2014
Exigences : US National Institutes of Health, UK Biotechnology and Biological Sciences …
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A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics 48 (10), 1279-1283, 2016
Exigences : US National Institutes of Health, Instituts de recherche en santé du Canada …
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The complete sequence of a human genome
S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze, A Mikheenko, ...
Science 376 (6588), 44-53, 2022
Exigences : US National Science Foundation, Fonds national suisse, US National …
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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
Exigences : US National Science Foundation, US National Institutes of Health, Howard …
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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
Exigences : National Natural Science Foundation of China, Wellcome Trust
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Population genomics of domestic and wild yeasts
G Liti, DM Carter, AM Moses, J Warringer, L Parts, SA James, RP Davey, ...
Nature 458 (7236), 337-341, 2009
Exigences : US National Institutes of Health
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Mouse genomic variation and its effect on phenotypes and gene regulation
TM Keane, L Goodstadt, P Danecek, MA White, K Wong, B Yalcin, ...
Nature 477 (7364), 289-294, 2011
Exigences : US National Institutes of Health, Cancer Research UK
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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
Exigences : US National Institutes of Health, Austrian Science Fund, Fondazione Telethon …
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The diploid genome sequence of an Asian individual
J Wang, W Wang, R Li, Y Li, G Tian, L Goodman, W Fan, J Zhang, J Li, ...
Nature 456 (7218), 60-65, 2008
Exigences : US National Institutes of Health
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Inferring human population size and separation history from multiple genome sequences
S Schiffels, R Durbin
Nature genetics 46 (8), 919-925, 2014
Exigences : Wellcome Trust
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Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
VA Schneider, T Graves-Lindsay, K Howe, N Bouk, HC Chen, PA Kitts, ...
Genome research 27 (5), 849-864, 2017
Exigences : US National Institutes of Health, Howard Hughes Medical Institute, European …
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Ensembl 2009
TJP Hubbard, BL Aken, S Ayling, B Ballester, K Beal, E Bragin, S Brent, ...
Nucleic acids research 37 (suppl_1), D690-D697, 2009
Exigences : US National Institutes of Health
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Mapping cis- and trans-regulatory effects across multiple tissues in twins
E Grundberg, KS Small, ÅK Hedman, AC Nica, A Buil, S Keildson, JT Bell, ...
Nature genetics 44 (10), 1084-1089, 2012
Exigences : Fonds national suisse, US National Institutes of Health
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YaHS: yet another Hi-C scaffolding tool
C Zhou, SA McCarthy, R Durbin
Bioinformatics 39 (1), btac808, 2023
Exigences : Wellcome Trust
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