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Fig. 1 | Genome Medicine

Fig. 1

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

Fig. 1

Overview of SvAnna algorithm. A Sequence deleteriousness score δ(G). The score assesses deleteriousness (predicted effect on gene function) by means of a series of heuristics for different SV classes (Table 1). B Phenotype similarity score Φ(Q,D). SvAnna calculates the phenotypic similarity for a set of HPO terms Q representing the patient’s phenotypic features and HPO terms D for a disease. SvAnna computes the information content (IC) of the most informative common ancestor (MICA) for all term pairs q, d for qand dD. The mean ICs μQ and μD are calculated for Q and D, and the final similarity score Φ is calculated as the mean of μD and μQ. The δ(G) and the Φ(Q,D) scores are combined to obtain the final PSV score (Methods)

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