Figure legend
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.