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Article

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.

Clinical genetics - 1 May 2025

Innella Giovanni, Coccia Emanuele, Cristalli Carlotta Pia, Zacchi Eliana, Calabrese Sara, Bacchi Isabelle, Palombo Flavia, Taormina Sara, Evangelisti Cecilia, Lanzoni Giulia, Carelli Valerio, Diquigiovanni Chiara, Ferrari Simona, Panza Emanuele, Rossi Cesare, Vaisfeld Alessandro, Bonora Elena, Turchetti Daniela

Abstract excerpt

Broad-spectrum genetic tests often lead to the identification of variants of uncertain significance (VUS), a major issue in modern clinical genetics. A fair proportion of VUS may alter the splicing processes, but their interpretation is challenging. This study aimed at providing a classification approach for VUS potentially-affecting splicing by integrating transcript analysis from peripheral blood mRNA into...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39707869
DOI: 10.1111/cge.14684
PMCID: PMC11973019

Genes

DICER1
DYNC1H1
MLH1
MSH2
RPS6KA3
SCN9A

Provenance

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