• 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 ...
    • Dihydropyrimidine Dehydrogenase Deficiency (DPYD) Genotyping-Guided Fluoropyrimidine-Based Adjuvant Chemotherapy for Breast Cancer. A Cost-Effectiveness Analysis 

      Abushanab, Dina; Mohamed, Shaban; Abdel-latif, Rania; Moustafa, Diala Alhaj; Marridi, Wafa; ... more authors ( Springer Nature , 2025 , Article)
      Background and Objective: While standard doses of adjuvant fluoropyrimidine-based chemotherapies are generally safe for most patients, the risk of severe adverse drug reactions (ADRs) is increased for those with dihydropyrimidine ...
    • 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 ...
    • 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 ...
    • Willingness to participate in genome testing: a survey of public attitudes from Qatar 

      Abdul-Rahim, Hanan; Ismail, Said; Hasan, Amel; Fadl, Tasnim; Khaled, Salma; ... more authors ( Springer , 2020 , Article)
      Genomics has the potential to revolutionize medical approaches to disease prevention, diagnosis, and treatment, but it does not come without challenges. The success of a national population-based genome program, like the ...