Article

The experimentally obtained functional impact assessments of GT>GC 5’ splice site variants differ markedly from those predicted

2019-12-11

Abstract excerpt

<h4>ABSTRACT</h4> GT>GC 5’ splice site (or +2T>C) variants have been frequently reported to cause human genetic disease. However, although we have demonstrated that GT>GC variants in human disease genes may not invariably be pathogenic, none of the currently available splicing prediction tools appear to be capable of reliably distinguishing those GT>GC variants that generate wild-type transcripts from those that...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4dc6bc92-f468-5feb-a0ee-6c66da2f1a4c
DOI: 10.1101/864843

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The experimentally obtained functional impact assessments of GT>GC 5’ splice site variants differ markedly from those predictedDOI 10.1101/864843Read

When splicing is not all or none: GT>GC 5′ splice-site variants as a model for intermediate effects and challenges in variant classificationSemantic proximity Read

Computational prediction of human deep intronic variationSemantic proximity Read

Computational prediction of human deep intronic variation.Semantic proximity Read

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.Semantic proximity Read

Data-driven insights to inform splice-altering variant assessment.Semantic proximity Read

CI-SpliceAI-Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites.Semantic proximity Read

5’ splice site GC>GT variants differ from GT>GC variants in terms of their functionality and pathogenicitySemantic proximity Read

Mechanism and modeling of human disease-associated near-exon intronic variants that perturb RNA splicing.Semantic proximity Read

Interpretable prioritization of splice variants in diagnostic next-generation sequencingSemantic proximity Read

Discovering cryptic splice mutations in cancers via a deep neural network frameworkSemantic proximity Read

Interpretable prioritization of splice variants in diagnostic next-generation sequencing.Semantic proximity Read

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysisSemantic proximity Read