• Actionable genomic variants in 6045 participants from the Qatar Genome Program 

      Elfatih, Amal; Mifsud, Borbala; Syed, Najeeb; Badii, Ramin; Mbarek, Hamdi; ... more authors (2021 , Article)
      In a clinical setting, DNA sequencing can uncover findings unrelated to the purpose of genetic evaluation. The American College of Medical Genetics and Genomics (ACMG) recommends the evaluation and reporting of 59 genes ...
    • High–temporal resolution profiling reveals distinct immune trajectories following the first and second doses of COVID-19 mRNA vaccines 

      Rinchai, Darawan; Deola, Sara; Zoppoli, Gabriele; Kabeer, Basirudeen Syed Ahamed; Taleb, Sara; ... more authors ( American Association for the Advancement of Science , 2022 , Article)
      Knowledge of the mechanisms underpinning the development of protective immunity conferred by mRNA vaccines is fragmentary. Here, we investigated responses to coronavirus disease 2019 (COVID-19) mRNA vaccination via ...
    • Real-Time SARS-CoV-2 Genotyping by High-Throughput Multiplex PCR Reveals the Epidemiology of the Variants of Concern in Qatar 

      R. Hasan, Mohammad; K.R. Kalikiri, Mahesh; Mirza, Faheem; Sundararaju, Sathyavathi; Sharma, Anju; ... more authors ( Elsevier , 2021 , Article)
      Complementing whole genome sequencing strategies with high-throughput multiplex RT-qPCR genotyping allows for more comprehensive and real-time tracking of SARS-CoV-2 variants of concern. During the second and third waves ...
    • Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes 

      Razali, Rozaimi Mohamad; Rodriguez-Flores, Juan; Ghorbani, Mohammadmersad; Naeem, Haroon; Aamer, Waleed; ... more authors ( Nature Research , 2021 , Article)
      Arab populations are largely understudied, notably their genetic structure and history. Here we present an in-depth analysis of 6,218 whole genomes from Qatar, revealing extensive diversity as well as genetic ancestries ...
    • Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model 

      Da’as, Sahar Isa; Hasan, Waseem; Salem, Rola; Younes, Nadine; Abdelrahman, Doua; ... more authors ( MDPI , 2022 , Article)
      Variants in cardiac myosin-binding protein C (cMyBP-C) are the leading cause of inherited hypertrophic cardiomyopathy (HCM), demonstrating the key role that cMyBP-C plays in the heart’s contractile machinery. To investigate ...
    • Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits 

      Thareja, Gaurav; Al-Sarraj, Yasser; Belkadi, Aziz; Almotawa, Maryam; Ismail, Said; ... more authors ( Springer Nature , 2021 , Article)
      Clinical laboratory tests play a pivotal role in medical decision making, but little is known about their genetic variability between populations. We report a genome-wide association study with 45 clinically relevant traits ...