Burden of Mendelian disorders in a large Middle Eastern biobank.
Waleed AamerAljazi Al-MaraghiNajeeb SyedGeethanjali Devadoss GandhiElbay AliyevAlya A Al-KurbiOmayma Al-SaeiMuhammad KohailanNavaneethakrishnan KrishnamoorthySasirekha PalaniswamyKhulod Al-MalkiSaleha AbbasiNourhen AgrebiFatemeh AbbaszadehAmmira S Al-Shabeeb AkilRamin BadiiTawfeg Ben-OmranBernice Lonull nullYounes MokrabKhalid A FakhroPublished in: Genome medicine (2024)
This study on the first phase of the growing Qatar Genome Program cohort provides a comprehensive resource from a Middle Eastern population to understand the global mutational burden in Mendelian genes and their impact on traits in seemingly healthy individuals in high consanguinity settings.