High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

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

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/34085946

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;: