GenomicsbioRxivPreprint
High Frequency Actionable Pathogenic Exome Mutations in an Average-Risk Cohort
Shannon M. Rego, Orit Dagan‐Rosenfeld, Wenyu Zhou…·Michael P. Snyder
The paper assesses exome sequencing in a healthy cohort to determine the frequency of medically actionable and non-actionable findings, finding 17% had actionable variants, including some outside standard guidelines.
5 citations