Figure 1

Analysis of copy number variations (CNVs) in the family with autism. (A) The five inherited CNVs inferred from SNP arrays are depicted with family structure, but none of the CNVs segregate with disease status. (B) Signal intensity (Log R Ratio and B Allele Frequency) plot from SNP arrays validates the 1q31 deletion in sample 10. In the deletion (dots between the two vertical lines), Log R Ratio values for SNP markers drop, and B Allele Frequency values cluster around 0 or 1. (C) PennCNV-Seq signal (sequence count and B Allele Frequency) plot on WGS data validates the 1q31 deletion in sample 10. In the deletion, the sequence counts tend to be lower than neighboring regions, and very few B Allele Frequency values cluster around 0.5. (D) Signal intensity plot from SNP arrays did not indicate the presence of the 1q31 deletion in sample 8. (E) PennCNV-Seq signal on WGS data did not indicate the presence of a 1q31 deletion in sample 8.