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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Autori principali:	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
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2025-07-01
Serie:	BMC Medical Genomics
Soggetti:	Congenital heart disease Long-read sequencing Tandem repeat element
Accesso online:	https://doi.org/10.1186/s12920-025-02191-8
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