Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Fiche publication
Date publication
août 2017
Journal
European journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick, Pr HUET Frédéric, Pr FAIVRE Laurence, Dr NAMBOT Sophie
Tous les auteurs :
Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J, Faivre L
Lien Pubmed
Résumé
Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h. Taking advantage of these advances, the main objective of the study was to improve turnaround times for sequencing results.
Mots clés
Diagnostic turnaround time, Exome sequencing, Undiagnosed genetic conditions
Référence
Eur J Med Genet. 2017 Aug;: