Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases.

Date publication

février 2023

Journal

Human genomics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr BRONOWICKI Jean-Pierre , Pr GUEANT Jean-Louis , Dr NAMOUR Bernard , Dr OUSSALAH Abderrahim

Tous les auteurs :
Alix T, Chéry C, Josse T, Bronowicki JP, Feillet F, Guéant-Rodriguez RM, Namour F, Guéant JL, Oussalah A

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/36740706

Résumé

Clinical exome sequencing (CES) provides a comprehensive and effective analysis of relevant disease-associated genes in a cost-effective manner compared to whole exome sequencing. Although several studies have focused on the diagnostic yield of CES, no study has assessed predictors of CES utility among patients with various Mendelian phenotypes. We assessed the effectiveness of CES as a first-level genetic test for molecular diagnosis in patients with a Mendelian phenotype and explored independent predictors of the clinical utility of CES.

Mots clés

Clinical exome sequencing, Consecutive case series, Diagnostic yield, Mendelian phenotype, Predictors of clinical utility, Reference center

Référence

Hum Genomics. 2023 02 5;17(1):5