Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease

Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease

About 15% of congenital heart disease (CHD) patients have a known pathogenic copy number variant. The majority of their chromosomal microarray (CMA) tests are deemed normal. Diagnostic interpretation typically ignores microdeletions smaller than 100 kb. We hypothesized that unreported microdeletions...

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Bibliographic Details
Main Authors: Nephi A. Walton, Hoang H. Nguyen, Sara S. Procknow, Darren Johnson, Alexander Anzelmi, Patrick Y. Jay
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Biology
Subjects:
chromosome microarray
congenital heart disease
data mining
genetic diagnosis
precision medicine
genetic testing
Online Access:https://www.mdpi.com/2079-7737/12/10/1290

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