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...

Full description

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

Internet

https://www.mdpi.com/2079-7737/12/10/1290

Similar Items