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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Үндсэн зохиолчид:	Jun-ichi Takeda, Sae Fukami, Akira Tamura, Akihide Shibata, Kinji Ohno
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Frontiers Media S.A. 2021-07-01
Цуврал:	Frontiers in Genetics
Нөхцлүүд:	splice acceptor site aberrant splicing single nucleotide variations intronic mutations LightGBM
Онлайн хандалт:	https://www.frontiersin.org/articles/10.3389/fgene.2021.701076/full
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