Article
Genomics of rare diseases in the Greater Middle East.
Nature genetics - 1 Mar 2025
Chekroun Ikram, Shenbagam Shruti, Almarri Mohamed A, Mokrab Younes, Uddin Mohammed, Alkhnbashi Omer S, Zaki Maha S, Najmabadi Hossein, Kahrizi Kimia, Fakhro Khalid A, Almontashiri Naif A M, Ali Fahad R, Özbek Uğur, Reversade Bruno, Alkuraya Fowzan S, Alsheikh-Ali Alawi, Abou Tayoun Ahmad N
Abstract excerpt
The Greater Middle East (GME) represents a concentrated region of unparalleled genetic diversity, characterized by an abundance of distinct alleles, founder mutations and extensive autozygosity driven by high consanguinity rates. These genetic hallmarks present a unique, yet vastly untapped resource for genomic research on Mendelian diseases. Despite this immense potential, the GME continues to face substantial...
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