High Frequency Actionable Pathogenic Exome Mutations in an Average-Risk Cohort
Shannon M. Rego, Orit Dagan‐Rosenfeld, Wenyu Zhou, M. Reza Sailani, Patricia Limcaoco, Elizabeth Colbert, Monika Avina, Jessica Wheeler, Colleen M. Craig, Denis N. Salins, Hannes Luc Röst, Jessilyn Dunn, Tracey McLaughlin, Lars Michael Steinmetz, Jonathan Adam Bernstein, 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.
bioRxiv · Jun 18, 2017 · PreprintGenomics