Figure 1: Pipeline of CNV discovery and analysis.
From: Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort
ASD patients and parents were genotyped by an Illumina 370 K or 660 K BeadChip. Control subjects were genotyped using an Illumina 610 K BeadChip. CNV calling and quality control were performed using the PennCNV program. Rare, large CNVs (>1 Mb) were used for validation and analysis. The global burden was subsequently determined. De novo CNVs and inherited CNVs were characterized.
