Fig. 2: Overview of the datasets used in the secondary analysis.
From: Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene
The utilized resources, selection criteria and filtering steps are outlined. Orange box, number of compiled variants; gray box, exclusion criteria and number of excluded variants; blue box, number of filtered and compiled variants based on their pathogenicity; yellow box, number of variants grouped into two sub-datasets and the number of VUS (Variant of Uncertain Significance) collected. MCGM denotes Manchester Center for Genomic Medicine while BRAVO denotes TOPMed (Trans-Omics for Precision Medicine) Data Freeze 8. Both resources were accessed in May 2023.
