Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants

Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants

Background Genome sequencing coupled with electronic heath record data can uncover medically important genetic variation. Interpretation of rare genetic variation and its role in mediating cardiovascular phenotypes is confounded by variants of uncertain significance. Methods and Results We analyzed...

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Bibliographic Details
Main Authors: Tess D. Pottinger, Megan J. Puckelwartz, Lorenzo L. Pesce, Avery Robinson, Samuel Kearns, Jennifer A. Pacheco, Laura J. Rasmussen‐Torvik, Maureen E. Smith, Rex Chisholm, Elizabeth M. McNally
Format: Article
Language:English
Published: Wiley 2020-02-01
Series:Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Subjects:
biobank
cardiomyopathy
left ventricle
medically actionable genes
variants of uncertain significance
Online Access:https://www.ahajournals.org/doi/10.1161/JAHA.119.013808

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