FexSplice: A LightGBM-Based Model for Predicting the Splicing Effect of a Single Nucleotide Variant Affecting the First Nucleotide G of an Exon

FexSplice: A LightGBM-Based Model for Predicting the Splicing Effect of a Single Nucleotide Variant Affecting the First Nucleotide G of an Exon

Single nucleotide variants (SNVs) affecting the first nucleotide G of an exon (Fex-SNVs) identified in various diseases are mostly recognized as missense or nonsense variants. Their effect on pre-mRNA splicing has been seldom analyzed, and no curated database is available. We previously reported tha...

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Bibliographic Details
Main Authors: Atefeh Joudaki, Jun-ichi Takeda, Akio Masuda, Rikumo Ode, Koichi Fujiwara, Kinji Ohno
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Genes
Subjects:
first nucleotide of an exon
splicing-affecting variants
LightGBM model
FexSplice web service program
Online Access:https://www.mdpi.com/2073-4425/14/9/1765

Internet

https://www.mdpi.com/2073-4425/14/9/1765

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