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

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 cha...

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Detalles Bibliográficos
Autores principales:	Kurosawa, Ryo, Iida, Kei, Ajiro, Masahiko, Awaya, Tomonari, Yamada, Mamiko, Kosaki, Kenjiro, Hagiwara, Masatoshi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10563346/ https://www.ncbi.nlm.nih.gov/pubmed/37817060 http://dx.doi.org/10.1186/s12864-023-09645-2

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