Article

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effect on mRNA splicing.

2022-02-21

Abstract excerpt

Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre-mRNA splicing via disruption/creation of splicing motifs such as 5’/3’ splice sites, branch sites or splicing regulatory elements. Unfortunately, most in silico tools focus on a specific type of splicing motif, which is why we developed the Splicing Prediction Pipeli...

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Literature Corpus work: d8e35f16-f164-539b-a7ee-ba17a89d79de
DOI: 10.22541/au.164544915.57104749/v1

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