Article
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.
Human genomics - 5 Feb 2023
Alix Tom, Chéry Céline, Josse Thomas, Bronowicki Jean-Pierre, Feillet François, Guéant-Rodriguez Rosa-Maria, Namour Farès, Guéant Jean-Louis, Oussalah Abderrahim
Abstract excerpt
BACKGROUND: 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...
Topics
- Male
- Humans
- Exome Sequencing
- Genetic Testing
- Phenotype
- Siblings
- Referral and Consultation