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Article

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2010

Gaildrat Pascaline, Killian Audrey, Martins Alexandra, Tournier Isabelle, Frébourg Thierry, Tosi Mario

Abstract excerpt

The interpretation of the numerous sequence variants of unknown biological and clinical significance (UV for "unclassified variant") found in genetic screenings represents a major challenge in the molecular diagnosis of genetic disease, including cancer susceptibility. A fraction of UVs may be deleterious because they affect mRNA splicing. Here, we describe a functional splicing assay based on a minigene...

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PMID: 20721748
DOI: 10.1007/978-1-60761-759-4_15

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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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