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Communication Dans Un Congrès Année : 2023

Basics of genetic diagnostics

Résumé

This introduction talk about the basics of genetic diagnosis will: 1) explain the great diversity of our genomes, and the key steps and challenges of genetic data interpretation, 2) explain the severity range of mutations in a given gene, and the challenges of variations of uncertain significance, 3) give key tips to understand a molecular genetics report, 4) describe the applications of the main genetic diagnostic tools and their limitations. ----- It will be illustrated with examples from monogenic respiratory diseases (primary ciliary dyskinesia, ILD and cystic fibrosis) affecting both children and adults. The presentation will include interactive polls in the audience.
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Dates et versions

inserm-04208235 , version 1 (15-09-2023)

Identifiants

  • HAL Id : inserm-04208235 , version 1

Citer

Marie Legendre. Basics of genetic diagnostics. European Respiratory Society, Sep 2023, Milan (Italie), Italy. ⟨inserm-04208235⟩
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