2022/02/02 by Hamdi Mbarek, Geethanjali Devadoss Gandhi, Senthil Selvaraj +23 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Genetic Associations and Epidemiology #Genomics and Rare Diseases
paper · pdf · doi:10.1002/humu.24336
openalex publication_date 2022/02/02 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/31
Despite recent biomedical breakthroughs and large genomic studies growing momentum, the Middle Eastern population, home to over 400 million people, is underrepresented in the human genome variation databases. Here we describe insights from Phase 1 of the Qatar Genome Program with whole genome sequenced 6047 individuals from Qatar. We identified more than 88 million variants of which 24 million are novel and 23 million are singletons. Consistent with the high consanguinity and founder effects in the region, we found that several rare deleterious variants were more common in the Qatari population while others seem to provide protection against diseases and have shaped the genetic architecture of adaptive phenotypes. These results highlight the value of our data as a resource to advance genetic studies in the Arab and neighboring Middle Eastern populations and will significantly boost the current efforts to improve our understanding of global patterns of human variations, human history, and genetic contributions to health and diseases in diverse populations.