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...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:BMC Medical Genomics
المؤلفون الرئيسيون: 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
التنسيق: مقال
اللغة:الإنجليزية
منشور في: BMC 2025-07-01
الموضوعات:
Congenital heart disease
Long-read sequencing
Tandem repeat element
الوصول للمادة أونلاين:https://doi.org/10.1186/s12920-025-02191-8

الانترنت

https://doi.org/10.1186/s12920-025-02191-8

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