Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.

Abstract excerpt

Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single-nucleotide variations (SNVs) and InDels, in ASD genetic diagnostics. Here, we performed WES on 50 Chinese children with ASD who tested negative for copy number...

Topics

• Humans
• Autism Spectrum Disorder
• Male
• DNA Copy Number Variations
• Female
• Exome Sequencing
• Child
• Child, Preschool
• Genetic Predisposition to Disease
• Polymorphism, Single Nucleotide