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Article

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.

Circulation - 19 Jun 2018

Shanks Garrett W, Tester David J, Ackerman Jaeger P, Simpson Michael A, Behr Elijah R, White Steven M, Ackerman Michael J

Abstract excerpt

BACKGROUND: Potentially lethal cardiac channelopathies/cardiomyopathies may underlie a substantial portion of sudden unexplained death in the young (SUDY). The whole-exome molecular autopsy represents the latest approach to postmortem genetic testing for SUDY. However, proper variant adjudication in the setting of SUDY can be challenging. METHODS: From January 2012 through December 2013, 25 consecutive cases of...

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PMID: 29915097
DOI: 10.1161/CIRCULATIONAHA.117.031053

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