Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

Abstract Intellectual disability (ID) has a prevalence of 1–3% and aproximately 30–50% of ID cases have a genetic cause. Development of next-generation sequencing has shown a high diagnostic potential. The aim of this work was to evaluate the diagnostic yield of clinical exome sequencing in 188 ID p...

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Bibliographic Details
Main Authors: María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro
Format: Article
Language:English
Published: BMC 2023-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Intellectual disability
Global developmental delay
Exome sequencing
NGS
Clinical exome sequencing
Diagnostic yield
Online Access:https://doi.org/10.1186/s13023-023-02809-z

Internet

https://doi.org/10.1186/s13023-023-02809-z

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