Fig. 1

Summary of study on the burden of Mendelian disorders in a large Middle Eastern biobank from Qatar. An in-depth analysis of pathogenic variants for Mendelian disorders among 6045 Qatari genomes with 77 biochemical and clinical phenotypes obtained from Qatar biobank. The study consists of two parts: first, investigation of the landscape of known and novel pathogenic variants; second, genome wide rare variant burden analysis. Pathogenic and likely pathogenic variants (P/LP) were defined based on intersecting ClinVar and HGMD. Global AF indicates allele Frequency in international databases including 1000 genomes, gnomAD, and ExAC. Other acronyms are explained as follows: AB, allele balance, AD, allele depth; AF, allele frequency