Utility of clinical exome sequencing in a complex Emirati pediatric cohort

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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Bibliographic Details
Main Authors: Nour Abu Mahfouz, Praseetha Kizhakkedath, Alia Ibrahim, Maha El Naofal, Sathishkumar Ramaswamy, Divinlal Harilal, Yasmeen Qutub, Mohammed Uddin, Alan Taylor, Zeinab Alloub, Ammar AlBanna, Walid Abuhammour, Basil Fathalla, Ahmad Abou Tayoun
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:Computational and Structural Biotechnology Journal
Subjects:
Clinical exome sequencing
WES
Pediatric
Diagnostic yield
Online Access:http://www.sciencedirect.com/science/article/pii/S2001037020301616

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http://www.sciencedirect.com/science/article/pii/S2001037020301616

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