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Rare-variant studies to complement genome-wide association studies

A Sazonovs, JC Barrett

Annual review of genomics and human genetics 19 (1), 97-112, 2018

Exigences : Wellcome Trust

Disponibles quelque part : 121

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

PR Burton, DG Clayton, LR Cardon, N Craddock, P Deloukas, ...

Nature 447 (7145), 661-678, 2007

Exigences : Versus Arthritis, UK, British Heart Foundation, Cancer Research UK

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 …

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

TM Frayling, NJ Timpson, MN Weedon, E Zeggini, RM Freathy, ...

Science 316 (5826), 889, 2007

Exigences : British Heart Foundation, Chief Scientist Office, Scottish Executive

[PDF] nature.com

The zebrafish reference genome sequence and its relationship to the human genome

K Howe, MD Clark, CF Torroja, J Torrance, C Berthelot, M Muffato, ...

Nature 496 (7446), 498-503, 2013

Exigences : US National Institutes of Health, German Research Foundation, UK …

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

Exigences : US National Institutes of Health, National Health and Medical Research …

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

JC Barrett, S Hansoul, DL Nicolae, JH Cho, RH Duerr, JD Rioux, SR Brant, ...

Nature genetics 40 (8), 955-962, 2008

Exigences : US National Institutes of Health, Research Foundation (Flanders), Institut …

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

A Franke, DPB McGovern, JC Barrett, K Wang, GL Radford-Smith, ...

Nature genetics 42 (12), 1118-1125, 2010

Exigences : US National Institutes of Health, German Research Foundation

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 …

Synaptic, transcriptional and chromatin genes disrupted in autism

S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ...

Nature 515 (7526), 209-215, 2014

Exigences : US National Institutes of Health, Howard Hughes Medical Institute, Health …

[PDF] ed.ac.uk

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

E Zeggini, MN Weedon, CM Lindgren, TM Frayling, KS Elliott, H Lango, ...

Science 316 (5829), 1336, 2007

Exigences : Chief Scientist Office, Scottish Executive

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

JZ Liu, S Van Sommeren, H Huang, SC Ng, R Alberts, A Takahashi, ...

Nature genetics 47 (9), 979-986, 2015

Exigences : US National Institutes of Health, Department of Biotechnology, India, UK …

[PDF] nejm.org

Covid-19 vaccine effectiveness against the Omicron (B. 1.1. 529) variant

N Andrews, J Stowe, F Kirsebom, S Toffa, T Rickeard, E Gallagher, ...

New England Journal of Medicine 386 (16), 1532-1546, 2022

Exigences : UK Biotechnology and Biological Sciences Research Council, UK Medical …

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

JC Barrett, DG Clayton, P Concannon, B Akolkar, JD Cooper, HA Erlich, ...

Nature genetics 41 (6), 703-707, 2009

Exigences : US National Institutes of Health

[HTML] nature.com

Assessing transmissibility of SARS-CoV-2 lineage B. 1.1. 7 in England

E Volz, S Mishra, M Chand, JC Barrett, R Johnson, L Geidelberg, ...

Nature 593 (7858), 266-269, 2021

Exigences : Bill & Melinda Gates Foundation, Academy of Medical Sciences, UK, UK …

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

CA Anderson, G Boucher, CW Lees, A Franke, M D'Amato, KD Taylor, ...

Nature genetics 43 (3), 246-252, 2011

Exigences : US National Institutes of Health, German Research Foundation, Swedish …

[PDF] ed.ac.uk

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

PR Burton, DG Clayton, LR Cardon, N Craddock, P Deloukas, ...

Nature genetics 39 (11), 1329-1337, 2007

Exigences : Research Foundation (Flanders), Versus Arthritis, UK, Cancer Research UK

[PDF] nature.com

Guidelines for investigating causality of sequence variants in human disease

DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ...

Nature 508 (7497), 469-476, 2014

Exigences : US National Institutes of Health

A systematic survey of loss-of-function variants in human protein-coding genes

DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ...

Science 335 (6070), 823-828, 2012

Exigences : Fonds national suisse, US National Institutes of Health, British Heart …