[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases].

Date publication

février 2018

Journal

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Auteurs

Membres identifiés du Cancéropôle Est :
Pr BINQUET Christine , Pr FAIVRE Laurence , Dr NAMBOT Sophie , Pr THAUVIN-ROBINET Christel , Dr PEYRON Christine

Tous les auteurs :
Demougeot L, Houdayer F, Pélissier A, Mohrez F, Thevenon J, Duffourd Y, Nambot S, Gautier E, Binquet C, Rossi M, Sanlaville D, Béjean S, Peyron C, Thauvin-Robinet C, Faivre L

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/29395884

Résumé

The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses.

Mots clés

Developmental abnormalities, Diagnosis, Genetics, Genomic medicine, High-throughput sequencing

Référence

Arch Pediatr. 2018 Feb;25(2):77-83