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Article

IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome.

Journal of human genetics - 1 Jul 2016

Shibata Akihide, Okuno Tatsuya, Rahman Mohammad Alinoor, Azuma Yoshiteru, Takeda Jun-Ichi, Masuda Akio, Selcen Duygu, Engel Andrew G, Ohno Kinji

Abstract excerpt

Precise spatiotemporal regulation of splicing is mediated by splicing cis-elements on pre-mRNA. Single-nucleotide variations (SNVs) affecting intronic cis-elements possibly compromise splicing, but no efficient tool has been available to identify them. Following an effect-size analysis of each intronic nucleotide on annotated alternative splicing, we extracted 105 parameters that could affect the strength of the...

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PMID: 27009626
DOI: 10.1038/jhg.2016.23

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RAPSN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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