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, Pr THAUVIN-ROBINET Christel


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

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;: