Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.
E Robert WassmanKaren S HoDiana BertrandKyle Walter DavisMegan M MartinStephanie PageAndreas PeifferAparna PrasadMoises A SerranoHope TwedeRena VanzoStephen W SchererMohammed Nazim UddinCharles H HenselPublished in: Neurology. Genetics (2019)
Application of CEI to CNVs in individuals with NDDs can identify genes of potential clinical relevance, aid laboratories in effectively searching the clinical literature, and support the clinical reporting of poorly annotated VUS.