Article

Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing

2019-11-08

Abstract excerpt

Defects in pre-mRNA splicing are frequently a cause of Mendelian disease. Despite the advent of next-generation sequencing, allowing a deeper insight into a patient’s variant landscape, the ability to characterize variants causing splicing defects has not progressed with the same speed. To address this, recent years have seen a sharp spike in the number of splice prediction tools leveraging machine learning...

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Literature Corpus work: e52bd75f-ddad-558e-a57c-e1721de4cd7a
DOI: 10.20944/preprints201911.0085.v1

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