Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

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

(2011) Carl A Anderson et al.   NATURE GENETICS

The IL23R R381Q Gene Variant Protects against Immune-Mediated Diseases by Impairing IL-23-Induced Th17 Effector Response in Humans

(2011) Paola Di Meglio et al.   PLoS One

A Meta-Analysis of Genome-Wide Association Scans Identifies IL18RAP, PTPN2, TAGAP, and PUS10 As Shared Risk Loci for Crohn's Disease and Celiac Disease

(2011) Eleonora A. M. Festen et al.   PLoS Genetics

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

(2010) Eileen Sproat Emison et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Update on the heritability of inflammatory bowel disease: The importance of twin studies

(2010) Steven R. Brant   INFLAMMATORY BOWEL DISEASES

Network organization of the human autophagy system

(2010) Christian Behrends et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Generation of pathogenic TH17 cells in the absence of TGF-β signalling

(2010) Kamran Ghoreschi et al.   NATURE

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

(2010) Yukihide Momozawa et al.   NATURE GENETICS

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

(2010) Dermot P B McGovern et al.   NATURE GENETICS

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci

(2010) Eli A Stahl et al.   NATURE GENETICS

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

(2010) Andre Franke et al.   NATURE GENETICS

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

Variant ofTYRand Autoimmunity Susceptibility Loci in Generalized Vitiligo

(2010) Ying Jin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

(2010) N. A. Zaghloul et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

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

(2009) Jeffrey C Barrett et al.   NATURE GENETICS

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Familial aggregation in Crohn's disease and ulcerative colitis in a Norwegian population-based cohort followed for ten years

(2008) May-Bente Bengtson et al.   Journal of Crohns & Colitis

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

(2008) Jeffrey C Barrett et al.   NATURE GENETICS

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE