The contribution of rare variants to common disease has, until recently, only been assessed for a subset of complex traits. The gnomAD, which includes exome and genome sequencing data of 141,456 individuals, constitutes the largest publicly available next-generation sequencing resource to date27. While this resource has undeniably transformed our ability to interpret rare variants and discover disease-associated genes, it is unsuited to the systematic assessment of the contribution of rare variation to human disease as it lacks linked phenotypic data.
