Genetics in medicine : official journal of the American College of Medical GeneticsHumansRNA SplicingGenetic TestingFemaleMale
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.
Yuchen Chang, Emma M Rath, Magdalena Soka, Emma S Singer, Gunjan Trivedi, Charlotte Burns, Rachel Austin, Tiffany Boughtwood, Jaye S Brown, Sarah Casauria, Belinda Chong, Jasmina Cvetkovska, Sally L Dunwoodie, Sebastian Lunke, Tessa Mattiske
Published: 202610.1016/j.gim.2025.101626
Abstract
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-spec…
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