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

Internet

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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