Fig. 2: Distribution of gene-specific variants (variant per individual per gene).
From: The genetic architecture of Parkinson’s disease on the Island of Crete
a Variant distribution in high-confidence genes in the patient cohort using all screening methods (red color represents pathogenic/likely pathogenic variants in patients, blue color represents VUS in patients); b variant distribution in high-confidence genes in both patients and controls detected solely via genotyping (yellow color represents pathogenic/likely pathogenic variants in controls, and dark green represent VUS in controls); c variant distribution in low-confidence genes in the patient cohort using all screening methods; d variant distribution in low-confidence genes in both patients and controls detected solely via genotyping. The differences in total variant counts and the genes identified between panels reflect the smaller number of variants genotyped in both patients and controls. Controls were genotyped exclusively by GP2. Although both laboratories (NINDS and GP2) employed the same genotyping array, some variants were genotyped only by one laboratory, likely due to differences in quality control settings.
