Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Fiche publication

Date publication

août 2017


European journal of medical genetics


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


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


Eur J Med Genet. 2017 Aug;: