High diagnostic yield of clinical exome sequencing in Middle Eastern @entity1 with XXXX .

@entity1 @entity71151 @entity75 @entity15650 @entity20522 @entity245 @entity4242 @entity2438 @entity71150 @entity34008 @entity74 @entity302 @entity4238 @entity22195 @entity717 @entity35543 @entity922
UNASSIGNED: @entity922 ( @entity922 ) has become an increasingly popular diagnostic tool in @entity1 with heterogeneous @entity74 , especially in those with neurocognitive phenotypes. Utility of @entity922 in consanguineous populations has not yet been determined on a large scale. A clinical cohort of 149 probands from Qatar with suspected Mendelian, mainly neurocognitive phenotypes, underwent @entity922 from July 2012 to June 2014. @entity717 and @entity245 were the most common clinical presentations but our cohort displayed other phenotypes, such as @entity302 , @entity4238 , @entity4242 and other @entity75 and @entity2438 . A pathogenic or likely pathogenic mutation, including pathogenic CNVs, was identified in 89 probands for a diagnostic yield of 60  %. Consanguinity and positive family history predicted a higher diagnostic yield. In 5  % (7/149) of cases, @entity922 implicated novel candidate disease genes ( @entity22195 , @entity71150 , @entity15650 , @entity35543 , @entity71151 , @entity20522 , @entity34008 ). @entity922 uncovered two coexisting @entity74 in 4  % (6/149) and actionable incidental findings in 2  % (3/149) of cases. Average time to diagnosis was reduced from 27 to 5  months. @entity922 , which already has the highest diagnostic yield among all available diagnostic tools in the setting of @entity74 , appears to be particularly helpful diagnostically in the highly consanguineous Middle Eastern population.
