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Article

Benchmarking deep learning splice prediction tools using functional splice assays.

Human mutation - 1 Jul 2021

Riepe Tabea V, Khan Mubeen, Roosing Susanne, Cremers Frans P M, 't Hoen Peter A C

Abstract excerpt

Hereditary disorders are frequently caused by genetic variants that affect pre-messenger RNA splicing. Though genetic variants in the canonical splice motifs are almost always disrupting splicing, the pathogenicity of variants in the noncanonical splice sites (NCSS) and deep intronic (DI) regions are difficult to predict. Multiple splice prediction tools have been developed for this purpose, with the latest tools...

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Identifiers

PMID: 33942434
DOI: 10.1002/humu.24212
PMCID: PMC8360004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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