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David Altshuler
David Altshuler
Vertex Pharmaceuticals
Geverifieerd e-mailadres voor vrtx.com
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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
A McKenna, M Hanna, E Banks, A Sivachenko, K Cibulskis, A Kernytsky, ...
Genome research 20 (9), 1297-1303, 2010
245292010
A framework for variation discovery and genotyping using next-generation DNA sequencing data
MA DePristo, E Banks, R Poplin, KV Garimella, JR Maguire, C Hartl, ...
Nature genetics 43 (5), 491-498, 2011
115992011
Analysis of protein-coding genetic variation in 60,706 humans
M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...
Nature 536 (7616), 285-291, 2016
101982016
PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
VK Mootha, CM Lindgren, KF Eriksson, A Subramanian, S Sihag, J Lehar, ...
Nature genetics 34 (3), 267-273, 2003
99882003
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
87622010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82652012
The structure of haplotype blocks in the human genome
SB Gabriel, SF Schaffner, H Nguyen, JM Moore, J Roy, B Blumenstiel, ...
science 296 (5576), 2225-2229, 2002
67182002
The international HapMap project
RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu, HM Yang, ...
Nature Publishing Group, 2003
62012003
From FastQ data to high‐confidence variant calls: the genome analysis toolkit best practices pipeline
GA Van der Auwera, MO Carneiro, C Hartl, R Poplin, G Del Angel, ...
Current protocols in bioinformatics 43 (1), 11.10. 1-11.10. 33, 2013
54122013
A second generation human haplotype map of over 3.1 million SNPs
International HapMap Consortium
Nature 449 (7164), 851, 2007
53722007
A haplotype map of the human genome
International HapMap Consortium Altshuler David altshuler@ molbio. mgh ...
Nature 437 (7063), 1299-1320, 2005
49752005
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
International SNP Map Working Group Cold Spring Harbor Laboratories ...
Nature 409 (6822), 928-933, 2001
44272001
Age-related clonal hematopoiesis associated with adverse outcomes
S Jaiswal, P Fontanillas, J Flannick, A Manning, PV Grauman, BG Mar, ...
New England Journal of Medicine 371 (26), 2488-2498, 2014
43092014
Biological, clinical and population relevance of 95 loci for blood lipids
TM Teslovich, K Musunuru, AV Smith, AC Edmondson, IM Stylianou, ...
Nature 466 (7307), 707-713, 2010
40352010
Integrating common and rare genetic variation in diverse human populations
International HapMap 3 Consortium
Nature 467 (7311), 52, 2010
31462010
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics 48 (10), 1279-1283, 2016
28572016
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
R Saxena, BF Voight, V Lyssenko, NP Burtt, PIW de Bakker, H Chen, ...
Science 316 (5829), 1331-1336, 2007
28022007
Characterization of single-nucleotide polymorphisms in coding regions of human genes
M Cargill, D Altshuler, J Ireland, P Sklar, K Ardlie, N Patil, CR Lane, ...
Nature genetics 22 (3), 231-238, 1999
25371999
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study
BF Voight, GM Peloso, M Orho-Melander, R Frikke-Schmidt, M Barbalic, ...
The Lancet 380 (9841), 572-580, 2012
25362012
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
J Dupuis, C Langenberg, I Prokopenko, R Saxena, N Soranzo, ...
Nature genetics 42 (2), 105-116, 2010
25012010
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Artikelen 1–20