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Figure 1. Validation of VIP-HL. (a) Comparing VIP-HL to a set of 50 hearing loss expert panel curated variant. (b) Counts of individual rules activated by ClinGen hearing loss expert panel, VIP-HL and InterVar for 50 pilot variants. Rules applied with a modified strength are denoted by the rule followed by _P for Supporting.
Figure 2. Frequency of rules applied for 4948 ClinVar variants . Rules applied with a modified strength are denoted by the rule followed by _P for Supporting, _M for Moderate, _S for Strong, and _VS for Very Strong.
Figure 3. VIP-HL web-interface workflow. A variant could be searched by HGVS nomenclature, chromosomal location, or dbSNP identifier. Once a variant is queried, results are showed in three parts. The top-left corner displays variant information; the top-right corner displays ACMG/AMP criteria and final classification; the lower part displays six sections, including basic information, population, computation, case/segregation, function, and community. In each section, the strength of each criterion is adjustable based on users’ evaluations.