Validating Clinical Exome Sequencing (CES) Test for Copy Number Variation (CNV) Analysis in Patients with Autism Spectrum Disorder

A routine methodologies to detect germline copy number variants (CNVs) are ArrayCGH, and SNParray, while clinical exome sequencing (CES) it is not a standard methods used in clinical settings. This study aims to investigate the efficiency of CNVs identification by CES in the diagnosis of Autism spectrum disorder (ASD) based on a Italian cohort. In this cohort study, 50 patients with ASD diagnosis were recruited for ASD screening. Simultaneous CNVs and single nucleotide variation (SNV) analysis was conducted to identify the anomalies that can cause ASD phenotype. A total of 13 patients were identified with a causative CNVs among 15 (86.67%) SNP array positive patients. Showing that CES data can be used for detecting clinically relevant CNVs with high sensitivity for use in clinical diagnostic settings.