Article

A validated heart-specific model for splice-disrupting variants in childhood heart disease

2023-11-27

Abstract excerpt

<h4>ABSTRACT</h4> Congenital heart disease (CHD) is the most common congenital anomaly. Non-canonical splice-disrupting variants are not routinely evaluated by clinical tests. Algorithms including SpliceAI predict such variants, but are not specific to cardiac-expressed genes. Whole genome (WGS) (n=1083) and myocardial RNA-Sequencing (RNA-Seq) (n=114) of CHD cases was used to identify splice-disrupting variants. U...

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Literature Corpus work: 990635c0-0eb0-568a-9dcd-cceb377f0ac2
DOI: 10.1101/2023.11.23.23298903

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