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population genomics

1 paper tagged “population genomics

BiologyNature · Oct 2018 Open access

The UK Biobank resource with deep phenotyping and genomic data

Clare Bycroft, Colin Freeman and Desislava Petkova

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.