Browsing by Subject "exome sequencing"

Now showing items 1-3 of 3

    • 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 ...

    • The Genetic Control of the Rheumatic Heart: Closing the Genotype-Phenotype Gap 

      Abdallah, Atiyeh M.; Abu-Madi, Marawan ( Frontiers Media , 2021 , Article Review)
      Rheumatic heart disease (RHD) is a heritable inflammatory condition characterized by carditis, arthritis, and systemic disease. Although remaining neglected, the last 3 years has seen some promising advances in RHD research. ...

    • Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes 

      George, Hindy; Dornbos, Peter; Chaffin, Mark D.; Liu, Dajiang J.; Wang, Minxian; ... more authors ( Elsevier , 2022 , Article)
      Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele ...