Jeffrey C. Barrett

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals of sequencing human genomes. However, putative loss-of-function genes, which are ...

Guidelines for investigating causality of sequence variants in human disease

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

There is increasing evidence that genome-wide association (GWA) studies represent a powerful approach to the identification of genes involved in common human diseases. We descri...

A Common Variant in the <i>FTO</i> Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity

Obesity is a serious international health problem that increases the risk of several common diseases. The genetic factors predisposing to obesity are poorly understood. A genome...

Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes

The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 populatio...

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

Evaluating coverage of genome-wide association studies

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

A reference panel of 64,976 haplotypes for genotype imputation

Class II HLA interactions modulate genetic risk for multiple sclerosis

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Abstract Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (...

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

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

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 p...

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting to enter clinical practice for the di...

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common di...