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

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

Abstract Background Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the search for the cause of genetic diseases. Determination of such pathogenic variants from a vast number of deep-intronic variants (approximately 1,500,000 variants per individual) represents a techn...

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Bibliographic Details
Main Authors: Ryo Kurosawa, Kei Iida, Masahiko Ajiro, Tomonari Awaya, Mamiko Yamada, Kenjiro Kosaki, Masatoshi Hagiwara
Format: Article
Language:English
Published: BMC 2023-10-01
Series:BMC Genomics
Subjects:
Pathogenicity prediction
RNA splicing
Deep intron
Non-coding region
Genomics
Machine learning
Online Access:https://doi.org/10.1186/s12864-023-09645-2

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