Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses

Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses

Background In nonsyndromic conotruncal cardiac defects, the use of next‐generation sequencing for clinical diagnosis is increasingly adopted, but gene‐disease associations in research are only partially translated to diagnostic panels, suggesting a need for evidence‐based consensus. Methods and Resu...

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Bibliographic Details
Main Authors: Martin M. C. Chui, Christopher C. Y. Mak, Mullin H. C. Yu, Sandra Y. Y. Wong, Kin‐Shing Lun, Tak‐Cheung Yung, Anna K. Y. Kwong, Pak‐Cheong Chow, Brian H. Y. Chung
Format: Article
Language:English
Published: Wiley 2023-02-01
Series:Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Subjects:
cardiac defects
congenital heart disease
conotruncal
gene burden
genetic testing
Online Access:https://www.ahajournals.org/doi/10.1161/JAHA.122.028226

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https://www.ahajournals.org/doi/10.1161/JAHA.122.028226

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