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Article

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

BMC genomics - 10 Oct 2023

Kurosawa Ryo, Iida Kei, Ajiro Masahiko, Awaya Tomonari, Yamada Mamiko, Kosaki Kenjiro, Hagiwara Masatoshi

Abstract excerpt

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 technical challenge to researchers. Thus, we developed a Pathogenicity predictor for Deep-Intronic Variants causing Aberrant...

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PMID: 37817060
DOI: 10.1186/s12864-023-09645-2
PMCID: PMC10563346

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