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

14 Oct 2024

Abstract excerpt

BACKGROUND: Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the loss or creation of exon boundaries are not routinely captured and/or evaluated by standard clinical genetic tests. Recent computational algorithms such as SpliceAI have shown...

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PMID: 39402625
DOI: 10.1186/s13073-024-01383-8

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