Browsing Biomedical Sciences by Author "Syed, Najeeb"

Now showing items 1-4 of 4

    • 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 ...

    • Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry 

      Okashah, Sarah; Vasudeva, Dhanya; El Jerbi, Aya; Khodjet-El-khil, Houssein; Al-Shafai, Mashael; ... more authors ( Multidisciplinary Digital Publishing Institute (MDPI) , 2022 , Article)
      Congenital heart disease (CHD) is one of the most common forms of birth defects worldwide, with a prevalence of 1–2% in newborns. CHD is a multifactorial disease partially caused by genetic defects, including chromosomal ...

    • Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery 

      Ghorbani, Mohammadmersad; Moosa, Shabir; Siddig, Zenab; Farhad, Radi; Naeem, Haroon; ... more authors ( Elsevier , 2025 , Article)
      Advances in long-read sequencing have enabled routine complete assembly of human genomes, but much remains to be done to represent broader populations and show impact on disease-gene discovery. Here, we report highly ...

    • 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 ...