Figure 1 : Variant classification workflow and correlation with African ancestry.

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

Figure 1

(a) The pipeline used to categorize variation into four groups (deleterious (Del.) PAVs, non-deleterious (Non-del.) PAVs, deleterious NAVs and non-deleterious NAVs) each with different levels of clinical relevance (see Methods for further explanation). The three key filters used in separating variants are (1) MAF from multiple databases, (2) pathogenic annotation (as defined by the ClinVar and/or HGMD) and (3) deleterious prediction. For be the x axis is the proportion of African ancestry as estimated by ADMIXTURE. The corresponding y axes represent the total number of variants per individual for the following groups: (b) deleterious PAVs, (c) non-deleterious PAVs, (d) deleterious NAVs and (e) non-deleterious NAVs. Colours of each individual reflect the population sampling location.