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

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 CE...

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Detalles Bibliográficos
Autores principales: Alix, Tom, Chéry, Céline, Josse, Thomas, Bronowicki, Jean-Pierre, Feillet, François, Guéant-Rodriguez, Rosa-Maria, Namour, Farès, Guéant, Jean-Louis, Oussalah, Abderrahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9899384/
https://www.ncbi.nlm.nih.gov/pubmed/36740706
http://dx.doi.org/10.1186/s40246-023-00455-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9899384/
https://www.ncbi.nlm.nih.gov/pubmed/36740706
http://dx.doi.org/10.1186/s40246-023-00455-x

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