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Article

Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2022

Sherafati Alborz, Elsekaily Omar, Saadatagah Seyedmohammad, Kochan David C, Lee Christopher, Wiesner Georgia L, Liu Cong, Dellefave-Castillo Lisa, Namjou Bahram, Perez Emma F, Salvati Zachary M, Connolly John J, Hakonarson Hakon, Williams Marc S, Jarvik Gail P, Chung Wendy K, McNally Elizabeth M, Manolio Teri A, Kullo Iftikhar J

Abstract excerpt

PURPOSE: We estimated the penetrance of pathogenic/likely pathogenic (P/LP) variants in arteriopathy-related genes and assessed near-term outcomes following return of results. METHODS: Participants (N = 24,520) in phase III of the Electronic Medical Records and Genomics network underwent targeted sequencing of 68 actionable genes, including 9 genes associated with arterial aneurysmal diseases. Penetrance was...

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PMID: 35943490
DOI: 10.1016/j.gim.2022.07.007
PMCID: PMC9837827

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