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Fig. 3 | Genome Medicine

Fig. 3

From: SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Fig. 3

Comparison of prioritization performance of different methods for prioritization of SVs. A Median ranks of 188 deleterious SVs obtained from simulated analysis runs. Top 5 means that the rank assigned by the tool was between 1 and 5, and so on. B Plot showing the cumulative rank for prioritizations by SvAnna, AnnotSV, X-CNV, SvScore, and ClassifyCNV. C SvAnna assigns the best rankings to all 5 evaluated SV classes. D SvAnna attains the best median ranks for SVs of all sizes, performing notably well in prioritization of variants involving multiple genes. In C and D, the boxes represent distributions of the median ranks. Each box plot is defined so that the center line is at the median variant rank, the box borders mark the 25th and 75th percentiles, and the whiskers stretch to denote 1.5 times the interquartile range

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Genome Medicine

ISSN: 1756-994X

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