Keyword
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.
The Exome Aggregation Consortium (ExAC) aggregates and jointly analyzes high-quality exome sequencing data from 60,706 individuals of diverse ancestries, producing the largest catalogue of human protein-coding variation at the time. The dataset reveals roughly one variant per eight exonic bases and provides direct evidence of widespread mutational recurrence. It enables improved estimation of gene-level intolerance to loss-of-function variation and refines the interpretation of pathogenic variants in clinical genetics.