Jonathan Marchini

The UK Biobank resource with deep phenotyping and genomic data

Abstract The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom...

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...

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank

Haplotype estimation for biobank-scale data sets

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

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

Genotype Imputation with Thousands of Genomes

Abstract Genotype imputation is a statistical technique that is often used to increase the power and resolution of genetic association studies. Imputation methods work by using ...

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...

Genotype imputation for genome-wide association studies