Fig. 2

Identification and description of pathogenic variants in 6,045 Qatari genomes. a Known pathogenic and likely pathogenic variants (P/LP) were obtained by intersecting variants from the Qatari cohort with 20 curated gene panels, ClinVar and HGMD databases. P/LP were defined as those with classes of “Pathogenic” and/or “Likely pathogenic” in ClinVar and “DM” or “DM?” categories in HGMD. Abbreviations; Cln-PLP, ClinVar pathogenic/likely pathogenic; HGMD-DM+, HGMD class of “DM” and/or “DM?”. b Count of genes per number of P/LP variants. c Allele frequency distribution of P/LP variants indicating most are below 1% (Left). Count of P/LP variants versus number of carrier subjects (Right). d Correlation of allele frequencies of P/PL variants in the Qatari dataset and global databases for variants that are rare in both cohorts (Left) and for those that are common in Qatari dataset and rare in global databases (Right)