Publications by authors named "The Qatar Genome Program Research Consortium"
Article Synopsis
- Polygenic scores (PGS) can help identify individuals at risk for health issues, but their effectiveness varies across different populations, especially outside well-studied ethnic groups.
- A study analyzed blood-circulating proteins in European and Arab populations, involving genome-wide sequencing of over 2,900 samples from Qatar Biobank, to assess how well PGS translate across these groups.
- Results showed a high overlap of genetic signals (81.8%) between the populations, but protein PGS from European data performed about 20% better in Europeans than in Arabs, highlighting the need for more inclusive genetic research.
Genome-wide association studies (GWAS) with non-targeted metabolomics have identified many genetic loci of biomedical interest. However, metabolites with a high degree of missingness, such as drug metabolites and xenobiotics, are often excluded from such studies due to a lack of statistical power and higher uncertainty in their quantification. Here we propose ratios between related drug metabolites as GWAS phenotypes that can drastically increase power to detect genetic associations between pairs of biochemically related molecules.
View Article and Find Full Text PDFHereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is inherited in an autosomal recessive pattern. The long tradition of consanguinity among the Qatari population has increased the prevalence of HHL, which negatively impacts the quality of life. Here, we functionally validated the pathogenicity of the c.
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