Browsing by Author "Tomei, Sara"

Now showing items 1-7 of 7

    • 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 ...

    • Immunomodulatory effects of vitamin d supplementation in a deficient population 

      Garand, Mathieu; Toufiq, Mohammed; Singh, Parul; Huang, Susie Shih Yin; Tomei, Sara; ... more authors ( Multidisciplinary Digital Publishing Institute (MDPI) , 2021 , Article)
      In addition to its canonical functions, vitamin D has been proposed to be an important mediator of the immune system. Despite ample sunshine, vitamin D deficiency is prevalent (>80%) in the Middle East, resulting in a high ...

    • 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 ...

    • The role of polymorphisms in vitamin d-related genes in response to vitamin d supplementation 

      Tomei, Sara; Singh, Parul; Mathew, Rebecca; Mattei, Valentina; Garand, Mathieu; ... more authors ( Multidisciplinary Digital Publishing Institute (MDPI) , 2020 , Article)
      Background. Vitamin D deficiency represents a major healthcare problem. Vitamin D status is influenced by genetic and environmental determinants. Several observational studies have evaluated the association of single-nucleotide ...

    • 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 ...

    • Understanding the genetics of early onset obesity in a cohort of children from Qatar. 

      Mohammed, Idris; Haris, Basma; Al-Barazenji, Tara; Vasudeva, Dhanya; Tomei, Sara; ... more authors ( Oxford University Press , 2023 , Article)
      Monogenic obesity is a rare form of obesity due to pathogenic variants in genes implicated in the leptin-melanocortin signaling pathway and accounts for around 5% of severe early onset obesity. Mutations in the genes ...

    • 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 ...