Genomics of Egyptian Healthy Volunteers: The EHVol Study (original) (raw)

Comprehensive genomic databases offer unprecedented opportunities towards effective tailored strategies for the prevention and treatment of disease. The integration of genomic and phenotypic data from diverse ethnic populations is also key to advancements in precision medicine and novel diagnostic technologies. Current reference genomic databases, however, are not representative of the global human population, making variant interpretation challenging and uncertain, especially in underrepresented populations such as the North African population. To address this, a study of 391 Egyptian healthy volunteers (EHVols) was initiated as a milestone towards establishing the 1000 Egyptian Genomes project. Keywords: Egyptian reference genome, Egyptian 1000 Genomes, precision medicine, genetic variation, variant interpretation, cardiovascular phenotype, Africa, inherited cardiac conditions, cardiomyopathy.