Följ
Mark Daly
Mark Daly
Director, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad Institute
Verifierad e-postadress på atgu.mgh.harvard.edu
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PLINK: a tool set for whole-genome association and population-based linkage analyses
S Purcell, B Neale, K Todd-Brown, L Thomas, MAR Ferreira, D Bender, ...
The American journal of human genetics 81 (3), 559-575, 2007
319122007
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
Haploview: analysis and visualization of LD and haplotype maps
JC Barrett, B Fry, J Maller, MJ Daly
Bioinformatics 21 (2), 263-265, 2005
157372005
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
87632010
Initial sequencing and comparative analysis of the mouse genome
European Bioinformatics Institute: Birney Ewan 3 Goldman Nick 3 Kasprzyk ...
Nature 420 (6915), 520-562, 2002
85512002
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82542012
MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations
ES Lander, P Green, J Abrahamson, A Barlow, MJ Daly, SE Lincoln, ...
Genomics 1 (2), 174-181, 1987
82401987
Biological insights from 108 schizophrenia-associated genetic loci
C Pantelis, GN Papadimitriou, S Papiol, E Parkhomenko, MT Pato, ...
Nature 511 (7510), 421-427, 2014
73942014
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
70822020
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
A second generation human haplotype map of over 3.1 million SNPs
IHM Consortium
Nature 449 (7164), 851, 2007
5372*2007
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
International Schizophrenia Consortium Manuscript preparation Purcell Shaun ...
Nature 460 (7256), 748-752, 2009
52082009
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
L Jostins, S Ripke, RK Weersma, RH Duerr, DP McGovern, KY Hui, ...
Nature 491 (7422), 119-124, 2012
51412012
A haplotype map of the human genome
International HapMap Consortium
Nature 437 (7063), 1299, 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
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
BK Bulik-Sullivan, PR Loh, HK Finucane, S Ripke, J Yang, ...
Nature genetics 47 (3), 291-295, 2015
42972015
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Artiklar 1–20