Throughout the history of genetic medicine, investigators have taken advantage of unique human populations with particular characteristics that lend themselves to genotype (individual) and phenotype (environmental) analysis. Population genetics research within the Weill Cornell Department of Genetic Medicine revolves around the distribution of human genes and the physiological characteristics that they affect within one particular population – the Middle Eastern nation of Qatar.
Qatar now has its own population-specific genome resource as a result of Weill Cornell Medicine researchers in New York and Qatar mapping the genomes of more than 1,000 Qatari nationals. This powerful reference tool will facilitate efforts to identify genetic variations that cause serious conditions such as cystic fibrosis, sickle cell anemia and muscular dystrophy among the local population. Precision medicine, which utilizes diagnostics and therapeutics based upon a patient’s genome, is now available in Qatar
With our initial mapping of the Qatari genome, and with future refinements to be made by the Qatari Genome Project, we now have the basis to define the genetic risk of disease for the entire Qatari population. Eventually, our Qatari genome research will provide the most important resources for prevention and treatment, within and well beyond the borders of Qatar.
Descriptions of datasets available from our recent publications. Raw and processed data is available in BAM, VCF, and PLINK format. In order to obtain access, please contact us by email with your name and contact information at: geneticmedicine@med.cornell.edu
