Clinical application of whole-exome sequencing across clinical indications.
Kyle RettererJane JuusolaMegan T ChoPatrik VitazkaFrancisca MillanFederica GibelliniAnnette Vertino-BellNizar SmaouiJulie A NeidichKristin G MonaghanDianalee McKnightRenkui BaiSharon SuchyBethany FriedmanJackie TahilianiDaniel E Pineda-AlvarezGabriele RichardTracy BrandtEden V HaverfieldWendy K ChungSherri BalePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
Our experience with our first 3,040 WES cases suggests that analysis of trios significantly improves the diagnostic yield compared with proband-only testing for genetically heterogeneous disorders and facilitates identification of novel candidate genes.Genet Med 18 7, 696-704.
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