Article
The biomedical landscape of genomic structural variation in the qatari population.
Nature communications - 13 Jan 2026
Aliyev Elbay, Syed Najeeb, Visconti Alessia, Aliyev Taghi, Belkadi Aziz, Ghorbani Mohammadmersad, Rossi Niccolò, Naeem Haroon, Gandhi Geethanjali Devadoss, Thareja Gaurav, Al-Maraghi Aljazi, Aamer Waleed, Ibrahim Amal Abdulsalam, Shaath Rulan, Al-Ajli Farooq Omar, Razali Rozaimi Mohamad, Sedlazeck Fritz J, Davila Sonia, Akil Ammira, Suhre Karsten, Mokrab Younes, Falchi Mario, Fakhro Khalid A
Abstract excerpt
We present a large-scale study of structural variation (SV) in the Qatari population, based on short-read whole-genome sequencing (WGS) of 6,141 individuals, identifying 153,946 variants across 5 classes reflecting the region's diversity and evolutionary history. Leveraging consanguinity and biobank phenotypes, we identify >180 putative gene knockouts, and use proteomics to show functional consequences in...
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