Article
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
International journal of molecular sciences - 31 Jul 2022
Vecten Maude, Pion Emmanuelle, Bartoli Marc, Morales Raul Juntas, Sternberg Damien, Rendu John, Stojkovic Tanya, Bourdain Cécile Acquaviva, Métay Corinne, Richard Isabelle, Cerino Mathieu, Milh Mathieu, Campana-Salort Emmanuelle, Gorokhova Svetlana, Levy Nicolas, Latypova Xénia, Bonne Gisèle, Biancalana Valérie, Petit François, Molon Annamaria, Perrin Aurélien, Laforêt Pascal, Attarian Shahram, Krahn Martin, Cossée Mireille
Abstract excerpt
The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more complex and responsible for long delays. It has been important to prioritize certain analyses, particularly those of "actionable" genes in diagnostic situations, involving specific treatment and/or management. In our project, we carried out an objective...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.