Genetic & Genomic MedicineGenome MedicinePeer-reviewed
A validated heart-specific model for splice-disrupting variants in childhood heart disease
Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester…·Seema R. Mital
The paper develops a heart-specific model to predict splice-disrupting variants in childhood heart disease, identifying variants missed by existing tools and showing higher accuracy in cardiac genes.
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