IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling

Prediction of the effect of a single-nucleotide variant (SNV) in an intronic region on aberrant pre-mRNA splicing is challenging except for an SNV affecting the canonical GU/AG splice sites (ss). To predict pathogenicity of SNVs at intronic positions −50 (Int-50) to −3 (Int-3) close to the 3’ ss, we...

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Detalles Bibliográficos
Autores principales: Takeda, Jun-ichi, Fukami, Sae, Tamura, Akira, Shibata, Akihide, Ohno, Kinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8326971/
https://www.ncbi.nlm.nih.gov/pubmed/34349788
http://dx.doi.org/10.3389/fgene.2021.701076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8326971/
https://www.ncbi.nlm.nih.gov/pubmed/34349788
http://dx.doi.org/10.3389/fgene.2021.701076

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