Fig. 1

SNCA duplication. The lower panel shows genotyping data from PD patient, generated using NeuroXchip. Shown is B Allele frequency for each single-nucleotide polymorphism (SNP) assayed, in which a value of 0 indicates a homozygous A/A genotype, a value of 1 indicates a homozygous B/B genotype, and a value of 0.5 represents a heterozygous A/B genotype. The highlighted region (pink) delimits the duplicated segment; within this region are a lack of heterozygous calls and clusters of points at a B allele frequency of ∼ 0.33 and ∼ 0.66, which, coupled with an increased log R ratio (upper panel), are indicative of A/A/B and A/B/B genotype calls, respectively. Figure plotted using R