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.