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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Κύριοι συγγραφείς:	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
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	BMC 2023-07-01
Σειρά:	Orphanet Journal of Rare Diseases
Θέματα:	Intellectual disability Global developmental delay Exome sequencing NGS Clinical exome sequencing Diagnostic yield
Διαθέσιμο Online:	https://doi.org/10.1186/s13023-023-02809-z
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