[HTML][HTML] Guidelines for investigating causality of sequence variants in human disease

DG MacArthur, TA Manolio, DP Dimmock, HL Rehm…�- Nature, 2014 - nature.com
The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing
disease-causing sequence variants from the many potentially functional variants present in�…

Microarrays and toxicology: the advent of toxicogenomics

EF Nuwaysir, M Bittner, J Trent…�- …�in cooperation with�…, 1999 - Wiley Online Library
The availability of genome‐scale DNA sequence information and reagents has radically
altered life‐science research. This revolution has led to the development of a new scientific�…

New IBD genetics: common pathways with other diseases

CW Lees, JC Barrett, M Parkes, J Satsangi�- Gut, 2011 - gut.bmj.com
Complex disease genetics has been revolutionised in recent years by the advent of genome-
wide association (GWA) studies. The chronic inflammatory bowel diseases (IBDs), Crohn's�…

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…�- Nature�…, 2009 - nature.com
Abstract Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the
action of multiple genetic and environmental risk factors. We report the findings of a genome�…

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

JC Barrett, S Hansoul, DL Nicolae, JH Cho, RH Duerr…�- Nature�…, 2008 - nature.com
Several risk factors for Crohn's disease have been identified in recent genome-wide
association studies. To advance gene discovery further, we combined data from three�…

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

L Jostins, S Ripke, RK Weersma, RH Duerr…�- Nature, 2012 - nature.com
Crohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease
(IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other�…

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

A Franke, DPB McGovern, JC Barrett, K Wang…�- Nature�…, 2010 - nature.com
We undertook a meta-analysis of six Crohn's disease genome-wide association studies
(GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up�…

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

M Parkes, JC Barrett, NJ Prescott, M Tremelling…�- Nature�…, 2007 - nature.com
A genome-wide association scan in individuals with Crohn's disease by the Wellcome Trust
Case Control Consortium detected strong association at four novel loci. We tested 37 SNPs�…

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…�- Nature�…, 2015 - nature.com
Ulcerative colitis and Crohn's disease are the two main forms of inflammatory bowel disease
(IBD). Here we report the first trans-ancestry association study of IBD, with genome-wide or�…

A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1

Y Miki, J Swensen, D Shattuck-Eidens, PA Futreal…�- Science, 1994 - science.org
A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast
and ovarian cancer, has been identified by positional cloning methods. Probable�…