Figure 1 | Scientific Reports

Figure 1

From: Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Figure 1

Screen-shot from ISVS simulator showing an example of “Fraction bi-allelic plot” obtained using default settings. Note information about given (x,y) point provided in the tooltip. This particular point indicates that if in a real ISVS experiment given variant was found in 20 patients of whom 19 also had a rare variant in the other allele (intrans:all = 19:20) there is considerable evidence (#SVM LR = 107) that the variant is pathogenic.

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