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

Nature, Published online: 27 May 2020; doi:10.1038/s41586-020-2267-z

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.