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

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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Bibliographic Details
Main Authors: Jun-ichi Takeda, Sae Fukami, Akira Tamura, Akihide Shibata, Kinji Ohno
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
splice acceptor site
aberrant splicing
single nucleotide variations
intronic mutations
LightGBM
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.701076/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.701076/full

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