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. 2022 Apr 28;3:851039. doi: 10.3389/fragi.2022.851039

FIGURE 2.

FIGURE 2

Relevance of COSMOS filters in our Parkinson exome data. (A). Germline SNVs. Intersection of the main criteria identifying germline heterozygous point mutations: VAF (high variant allele frequency), Binomial (non-significant binomial test for allele depths) and BinomialInd (non-significant binomial test in at least one sample from the individual). For each intersection, the number of variants also found in the other individuals of our dataset (PD panel, filled in lavender) and an external panel (PON, purple triangle) are shown. (B). CNV regions. Intersection of DepthRange (most extreme depth variants) and SegmentalDups (segmental duplications WGAC track) with PD panel and PON (light and dark green triangles, respectively) and variants present in the 1000GP strict mask filled in green. (C). Relationship between criteria. Log2 ratio between the number of variants failing both the row and the column criteria and those failing the row criterium only. Higher log2 ratios (red) denote higher co-occurrence of criteria failures. The annotation column (green gradient) indicates the total number of positions failing each of the row criteria.