Analysis of protein-coding genetic variation in 60,706 humans
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.