High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Fiche publication
Date publication
mars 2021
Journal
Journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick, Pr FAIVRE Laurence, Pr PHILIPPE Christophe, Dr NAMBOT Sophie, Mr DUFFOURD Yannis
Tous les auteurs :
Thomas Q, Vitobello A, Tran Mau-Them F, Duffourd Y, Fromont A, Giroud M, Daubail B, Jacquin-Piques A, Hervieu-Begue M, Moreau T, Osseby GV, Garret P, Nambot S, Delanne J, Bruel AL, Sorlin A, Callier P, Denomme-Pichon AS, Faivre L, Béjot Y, Philippe C, Thauvin-Robinet C, Moutton S
Lien Pubmed
Résumé
To assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.
Mots clés
clinical laboratory techniques, molecular diagnostic techniques, neurodegenerative diseases, neurology
Référence
J Med Genet. 2021 Mar 5;: