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Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Nader Al DewikHowaida MohdMariam Al-MureikhiRehab AliFatma Al-MesaifriLaila MahmoudNoora ShahbeckKaren El-AkouriMariam AlmullaReem Al SulaimanSara MusaAjayeb Al-Nabet Al-MarriGabriele RichardJane JuusolaBenjamin D SolomonFowzan Sami AlkurayaTawfeg Ben-Omran
Published in: American journal of medical genetics. Part A (2019)
Middle Eastern patients tend to have a higher yield from CES than outbred populations, which has important implications in test choice especially early in the diagnostic process. The relatively high diagnostic rate is likely related to the predominance of recessive diagnoses (60%) since consanguinity and positive family history were strong predictors of a positive CES.
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