![]() Among the 10 de novo single nucleotide variations, 7 were previously unreported. Among these 9 copy number variation cases, 5 were de novo and 4 were inherited. Results: Among 354 patients, 9 cases with pathogenic/likely pathogenic copy number variation and 10 cases with pathogenic/likely pathogenic single nucleotide variations were detected, with a total positive rate of 5.3%. ![]() Sanger sequencing and quantitative PCR were used to verify the positive results. Sequencing data analyses were performed for mining the single nucleotide variation (SNV), copy number variation (CNV) and structural variation (SV). Peripheral blood samples of the patients were collected for whole genome sequencing (WGS) and RNA sequencing (RNAseq). Methods: A cohort of 354 autism spectrum disorder patients were obtained from Beijing Children’s Hospital, Capital Medical University. Purpose: To establish an effective genomic diagnosis pipeline for children with autism spectrum disorder (ASD) for its genetic etiology and intervention. ![]()
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