Deletion of Loss-of-Function –Intolerant Genes and Risk of 5 Psychiatric Disorders

This study examines 2 gene-level metrics of variation constraint against protein-truncating variants —probability of loss-of-function intolerance and loss-of-function observed/expected upper bound fraction—and their association with the psychiatric consequences of both recurrent and nonrecurrent gene deletions.

Source: JAMA Psychiatry - December 1, 2021 Category: Psychiatry Source Type: research