Performance evaluation of computational methods for splice-disrupting variants and improving the performance using the machine learning-based framework.

Abstract excerpt

A critical challenge in genetic diagnostics is the assessment of genetic variants associated with diseases, specifically variants that fall out with canonical splice sites, by altering alternative splicing. Several computational methods have been developed to prioritize variants effect on splicing; however, performance evaluation of these methods is hampered by the lack of large-scale benchmark datasets. In this...

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