Fig. 3

Retrospective analysis of variant origin prediction results provided by bioinformatics software (ISOWN). Manual curation was used as the gold standard. ISOWN accuracy does not depend on the variant allele frequency (NOS—variants with uncertain origin, as considered by manual curation) (A), in contrast to false-positive and false-negative rates (B). The same results were seen for different ranges of VAF distance between the studied variant and the known hotspot VAF in the same sample (C, D)