The mutational constraint spectrum quantified from variation in 141,456 humans

The Genome Aggregation Database (gnomAD)
Article | 27 May 2020 | Open Access

 

The mutational constraint spectrum quantified from variation in 141,456 humans
A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.
Konrad J. Karczewski, Laurent C. Francioli[…] & Daniel G. MacArthur