Article

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

2023-03-20

Abstract excerpt

Deep-intronic variants often cause genetic diseases by altering RNA splicing. However, these pathogenic variants are overlooked in whole-genome sequencing analyses, because they are quite difficult to segregate from a vast number of benign variants (approximately 1,500,000 deep-intronic variants per individual). Therefore, we developed the Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicin...

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Literature Corpus work: bd71cd4b-d430-5a71-b7d0-3a4e2314b3fb
DOI: 10.1101/2023.03.20.23287464

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