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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Udgivet i:Front Genet
Main Authors: Takeda, Jun-ichi, Fukami, Sae, Tamura, Akira, Shibata, Akihide, Ohno, Kinji
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2021
Fag:
Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8326971/
https://ncbi.nlm.nih.gov/pubmed/34349788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.701076
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