Skip to main content
. Author manuscript; available in PMC: 2016 Jan 21.
Published in final edited form as: Pac Symp Biocomput. 2016;21:231–242.

Figure 5. Exploring pathogenicity ratings.

Figure 5

Screenshot from a website that enables users to explore disease-specific pathogenic variation. The user can select the disease, prevalence, heterogeneity, cohort used for frequency data, and penetrance threshold, and run an analysis for matching ClinVar variants. The user is linked to variant assertions in ClinVar to re-evaluate pathogenicity assertions systematically. A live version of this site can be found at http://people.fas.harvard.edu/~manrai/pathogenicity_explorer.