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Article

SpliceVarDB: A comprehensive database of experimentally validated human splicing variants.

American journal of human genetics - 3 Oct 2024

Sullivan Patricia J, Quinn Julian M W, Wu Weilin, Pinese Mark, Cowley Mark J

Abstract excerpt

Variants that alter gene splicing are estimated to comprise up to a third of all disease-causing variants, yet they are hard to predict from DNA sequencing data alone. To overcome this, many groups are incorporating RNA-based analyses, which are resource intensive, particularly for diagnostic laboratories. There are thousands of functionally validated variants that induce mis-splicing; however, this information...

Read the complete abstract on PubMed

Topics

Humans
RNA Splicing
Databases, Genetic
Genetic Variation
Alternative Splicing
Software

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39226898
DOI: 10.1016/j.ajhg.2024.08.002
PMCID: PMC11480807

Provenance

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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