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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021

Lee Christopher, Elsekaily Omar, Kochan David C, Alhalabi Lubna, Faizee Faizan, Sharp Richard, Lindor Noralane M, Kullo Iftikhar J

Abstract excerpt

PURPOSE: We estimated penetrance of actionable genetic variants and assessed near-term outcomes following return of results (RoR). METHODS: Participants (n = 2,535) with hypercholesterolemia and/or colon polyps underwent targeted sequencing of 68 genes and 14 single-nucleotide variants. Penetrance was estimated based on presence of relevant traits in the electronic health record (EHR). Outcomes occurring within...

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PMID: 33824501
DOI: 10.1038/s41436-021-01142-9
PMCID: PMC9839314

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