Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.

Christopher LeeOmar ElsekailyDavid C KochanLubna AlhalabiFaizan FaizeeRichard SharpNoralane M LindorIftikhar J Kullo

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Relevant phenotypic traits were observed in 57% whereas a clinical outcome occurred in 19% of participants with actionable genomic variants in the year following RoR.

Keyphrases

copy number
genome wide
dna methylation
single cell
type diabetes
gene expression
adipose tissue