Figure 2 : Historical view of African-ancestry biases in ClinVar.

From: Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry

Figure 2

The x axis represents the various archived versions of ClinVar. In the black y axis on the right, we see the number of PAVs recorded from each version of the database. There are a few decreases in numbers, but overall this number shows continuous growth. In the blue y axis on the left, we see the correlation coefficient estimated between the number of PAVs per CAAPA individual and their proportion of African ancestry. The dotted grey line represents the date of the first official release of ClinVar. The blue trend line shows the instability across different ClinVar releases of the correlation of African-ancestry proportion with average number of pathogenic variants per individual. The change in correlation is particularly notable for sequential releases between March and April 2014, after which the correlation remains significantly negative for 3 months (April–July 2014) before once again becoming significantly positive. The red trend line represents the same relationship between ancestry–pathogenicity correlation and ClinVar release over time after applying filters, and shows a significant change in correlation during the same 3-month period of April–July 2014 despite an overall reduction in movement of the correlation across time.