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[The clinical actionability of genes: A concept for rare diseases and the first objective assessment for myopathies].

Medecine sciences : M/S - 1 Nov 2024

Pion Emmanuelle, Bonne Gisèle, Atalaia Antonio, Salort-Campana Emmanuelle, Gorokhova Svetlana, Attarian Shahram, Cossée Mireille, Krahn Martin

Abstract excerpt

High-throughput sequencing has introduced the concept of "actionable genes". These genes are linked to diseases for which specific treatments or care exist. Accurate genetic diagnosis is therefore crucial for initiating interventions that can prevent or delay the progression of rare diseases. High-throughput sequencing has considerably increased the capacities of genetic analyses, but it has also led to an...

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PMID: 39555868
DOI: 10.1051/medsci/2024128

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