The UK Biobank resource with deep phenotyping and genomic data
Clare Bycroft, Colin Freeman, Desislava Petkova · and the UK Biobank consortium
Summary
This paper describes the open-access UK Biobank resource of deep genetic and phenotypic data on roughly 500,000 participants. It details the genotyping of ~805,000 markers, imputation to over 90 million variants, and analyses of population structure, relatedness, and genotype quality. The resource has become a foundational dataset for genome-wide association studies and human complex-trait genetics.
Key findings
- Provides genome-wide genotype data (~805,000 assayed markers, imputed to >90 million variants) linked to extensive phenotypes for ~500,000 individuals.
- Characterizes fine-scale population structure, relatedness, and ancestry within the cohort.
- Establishes a standardized, openly accessible quality-controlled resource that has enabled thousands of downstream genetic association studies.
Subjects & keywords
Cite this paper
Clare Bycroft, Colin Freeman, & Desislava Petkova [and the UK Biobank consortium] (2018). The UK Biobank resource with deep phenotyping and genomic data. Nature. https://doi.org/10.1038/s41586-018-0579-z
@article{bycroft2018biobank,
author = {Clare Bycroft and Colin Freeman and Desislava Petkova and {and the UK Biobank consortium}},
title = {The UK Biobank resource with deep phenotyping and genomic data},
journal = {Nature},
year = {2018},
doi = {10.1038/s41586-018-0579-z},
url = {https://doi.org/10.1038/s41586-018-0579-z}
}