Article
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
BMC medical genomics - 19 Jul 2016
Charng Wu-Lin, Karaca Ender, Coban Akdemir Zeynep, Gambin Tomasz, Atik Mehmed M, Gu Shen, Posey Jennifer E, Jhangiani Shalini N, Muzny Donna M, Doddapaneni Harsha, Hu Jianhong, Boerwinkle Eric, Gibbs Richard A, Rosenfeld Jill A, Cui Hong, Xia Fan, Manickam Kandamurugu, Yang Yaping, Faqeih Eissa A, Al Asmari Ali, Saleh Mohammed A M, El-Hattab Ayman W, Lupski James R
Abstract excerpt
BACKGROUND: Neurodevelopment is orchestrated by a wide range of genes, and the genetic causes of neurodevelopmental disorders are thus heterogeneous. We applied whole exome sequencing (WES) for molecular diagnosis and in silico analysis to identify novel disease gene candidates in a cohort from Saudi Arabia with primarily Mendelian neurologic diseases. METHODS: We performed WES in 31 mostly consanguineous Arab...
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