Fig. 2: Strategy to design and assess QChip1.

Step 1. Qatari Genome Knowledgebase. Identification of the single gene (Mendelian) pathogenic variants and genes in protein coding regions of the Qatari genome was generated using whole-genome sequencing, exome sequencing and clinical reports (see Table 1). After cataloging all variants and respective genes, the pathogenic variants and genes were identified using ClinVar and SnpEff. Step 2. Using this list, Qchip0 (the precursor of QChip1) was designed on the Axiom platform which was then tested with 25 Qatari DNA samples for which whole-genome sequencing was available. Step 3. Elimination of poor performance probes and variants led to the final design of QChip1, which was tested for concordance with genome sequencing using DNA samples from Qataris. Step 4. Use of QChip1 to assess the prevalence of pathogenic variants and genes among Qataris, New York City residents and Puerto Ricans.