Utility of clinical exome sequencing in a complex Emirati pediatric cohort

Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with a reported average diagnostic yield of ~25% in this patient poulation. The utility of CES in the United Arab Emirates (UAE) has not been previously investigated, most likely due to the lack...

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Detalles Bibliográficos
Autores principales: Mahfouz, Nour Abu, Kizhakkedath, Praseetha, Ibrahim, Alia, El Naofal, Maha, Ramaswamy, Sathishkumar, Harilal, Divinlal, Qutub, Yasmeen, Uddin, Mohammed, Taylor, Alan, Alloub, Zeinab, AlBanna, Ammar, Abuhammour, Walid, Fathalla, Basil, Tayoun, Ahmad Abou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200174/
https://www.ncbi.nlm.nih.gov/pubmed/32382396
http://dx.doi.org/10.1016/j.csbj.2020.04.013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200174/
https://www.ncbi.nlm.nih.gov/pubmed/32382396
http://dx.doi.org/10.1016/j.csbj.2020.04.013

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