Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing

Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing

Abstract Background Congenital heart disease (CHD) is an important cause of childhood mortality as well as morbidity in children and adults. While genetic risk contributes to the majority of CHD, most individuals with CHD do not have an identified genetic diagnosis. Short tandem repeat (TR) elements...

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Main Authors: Abhilash Suresh, Sarah U. Morton, Daniel Quiat, Steven R. DePalma, Joshua M. Gorham, Martina Brueckner, Martin Tristani-Firouzi, Bruce D. Gelb, Jonathan G. Seidman, Christine E. Seidman, the Pediatric Cardiac Genomics Consortium
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Medical Genomics
Subjects:
Congenital heart disease
Long-read sequencing
Tandem repeat element
Online Access:https://doi.org/10.1186/s12920-025-02191-8
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https://doi.org/10.1186/s12920-025-02191-8

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