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UK Biobank

The UK Biobank is a prospective cohort study with deep genetic, physical and health data collected on ~500,000 individuals across the United Kingdom from 2006-2010. This unprecedented open access database has enabled an order of magnitude larger studies on genetic and epidemiological associations for an extensive range of health related traits. The UK Biobank has generously made their datasets, and research results resulting from these, accessible to researchers as an open access resource to benefit public health.

This collection accompanies the publication of the first main papers from UK Biobank in Nature and associated commentaries. We also highlight a selection of research publications from Nature journals that showcase how these UK Biobank datasets have already been widely used in a broad range of studies in order to advance the understanding of the genetic basis of disease, genetic epidemiology and public health.

- Orli G. Bahcall, Senior Editor, Nature

LISTEN: Professor Jonathan Marchini discusses the UK Biobank genetics and brain imaging publications in Nature. Podcast: UK Biobank opens a new era of health research.

UK Biobank publications

Deep phenotype and genome-wide genetic data from 500,000 individuals from the UK Biobank, describing population structure and relatedness in the cohort, and imputation to increase the number of testable variants to 96 million.

Article | Open Access | | Nature

The UK Biobank combines detailed phenotyping and genotyping with tracking of long-term health outcomes in a large cohort. This study describes the recently launched brain-imaging component that will ultimately scan 100,000 individuals. Results from the first 5,000 subjects are reported, including thousands of associations, population modes and hypothesis-driven results.

Resource | | Nature Neuroscience

News & Commentaries

UK Biobank contains a wealth of data on genetics, health and more from 500,000 participants. A detailed overview of the biobank and an analysis of its brain-imaging data show the value of this resource.

News & Views | | Nature

Two studies in Nature describe the full data set of the UK Biobank resource, which contains genome-wide genetic data, clinical measurements and health records for ~500,000 individuals, and reveal insights into the brain’s genetic architecture.

Research Highlight | | Nature Reviews Genetics

Health genetics

Genome-wide meta-analysis identifies >100 loci associated with hair color variation in humans of European ancestry. These loci explain a large portion of the heritability of this trait & provide insights into pathways regulating hair pigmentation.

Letter | | Nature Genetics

Examination of predicted loss-of-function (pLOF) genetic variants allows direct identification of genes with therapeutic potential. Here, Emdin et al. perform association analysis for 3759 pLOF variants with 24 traits and highlight protective variants against cardiometabolic and immune phenotypes.

Article | Open Access | | Nature Communications

Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations between PTVs and medical conditions.

Article | Open Access | | Nature Communications

Testing the association between genetic variants and a range of phenotypes can assist drug development. Here, in a phenome-wide association study in up to 697,815 individuals, Diogo et al. identify genotype–phenotype associations predicting efficacy, alternative indications or adverse drug effects.

Article | Open Access | | Nature Communications

Little is known about the genetic determinants of social isolation and loneliness despite their well-established importance for health. Here, using multi-trait GWAS, Day et al. identify 15 genomic loci for loneliness and further show a bidirectional causal relationship between BMI and loneliness by MR.

Article | Open Access | | Nature Communications

Konstantinos Hatzikotoulas et al. report the largest genome-wide association study to date for developmental dysplasia of the hip using national clinical audit data from the UK. They find a significant association with the GDF5 locus and evidence for shared genetic architecture with hip osteoarthritis.

Article | Open Access | | Communications Biology

Rosa Thorolfsdottir et al. report a genome-wide association study of atrial fibrillation in 29,502 cases and 767,760 controls from Iceland and the UK Biobank. They identify a significant association with coding variants in RPL3L, the first ribosomal gene implicated in atrial fibrillation, and MYZAP, an intercalated disc gene.

Article | Open Access | | Communications Biology

Methods

SAIGE (Scalable and Accurate Implementation of GEneralized mixed model) is a generalized mixed model association test that can efficiently analyze large data sets while controlling for unbalanced case-control ratios and sample relatedness, as shown by applying SAIGE to the UK Biobank data for > 1,400 binary phenotypes.

Analysis | | Nature Genetics

MTAG is a new method for joint analysis of summary statistics from genome-wide association studies of different traits. Applying MTAG to summary statistics for depressive symptoms, neuroticism and subjective well-being increased discovery of associated loci as compared to single-trait analyses.

Article | | Nature Genetics