Evaluating drug targets through human loss-of-function genetic variation

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

 

Analysis | 27 May 2020 | Open Access
Evaluating drug targets through human loss-of-function genetic variation
Analysis of predicted loss-of-function variants from 125,748 human exomes and 15,708 whole genomes in the Genome Aggregation Database (gnomAD) provides a roadmap for human ‘knockout’ studies and a guide for future research into disease biology and drug-target selection.
Eric Vallabh Minikel, Konrad J. Karczewski[…] & Daniel G. MacArthur