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Additional file 1: Figure S1. of Streamlined analysis of duplex sequencing data with Du Novo

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posted on 2016-08-26, 05:00 authored by Nicholas Stoler, Barbara Arbeithuber, Wilfried Guiblet, Kateryna Makova, Anton Nekrutenko
Receiver operating characteristic (ROC) for Du Novo detecting 21 artificial heteroplasmies in a simulated duplex sequencing experiment. Shown are true positives versus false positives detected using different minor allele frequency thresholds, in steps of 0.00001 (the depth of coverage threshold was held constant at 10,000×). At the bottom left, no heteroplasmies at all are detected at a threshold MAF of 0.00016. The first variant is detected at a MAF of 0.00015, with no false positives. Continuing upward, no false positives are detected while increasing true positives are found until the upper left corner at a MAF of 0.00008, with 20 true positives and no false positives. Then, increasing false positives are found with no gain in true positives until the last true single-nucleotide variant (SNV) is found at a MAF of 0.00004, with 46 false positives also observed at that threshold. (PNG 23 kb)

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National Human Genome Research Institute

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