Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

doi:10.1016/j.gim.2025.101626

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Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2026

Chang Yuchen, Rath Emma M, Soka Magdalena, Singer Emma S, Trivedi Gunjan, Burns Charlotte, Austin Rachel, Boughtwood Tiffany, Brown Jaye S, Casauria Sarah, Chong Belinda, Cvetkovska Jasmina, Dunwoodie Sally L, Lunke Sebastian, Mattiske Tessa, McGaughran Julie, Pantaleo Sarah-Jane, Quinn Michael C J, Semsarian Chris, Macciocca Ivan, Ingles Jodie, Fatkin Diane, Giannoulatou Eleni, Bagnall Richard D

Abstract excerpt

PURPOSE: The Australian Genomics Cardiovascular Disorders Flagship investigated genome sequencing as a first-line genetic test in 600 individuals with cardiomyopathy, primary arrhythmia syndromes, or congenital heart disease. Analysis of disease-specific virtual gene panels achieved a genetic diagnosis in 38% of participants. We sought to increase genetic diagnosis yields by analyzing lesser-evidenced disease...

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PMID: 41175027
DOI: 10.1016/j.gim.2025.101626

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TBX20

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