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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Detalhes bibliográficos
Publicado no:Comput Struct Biotechnol J
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Research Network of Computational and Structural Biotechnology 2020
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7200174/
https://ncbi.nlm.nih.gov/pubmed/32382396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.csbj.2020.04.013
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