npj Genomic MedicineGenomicsPeer-reviewed journal article
Genomics of Egyptian Healthy Volunteers: The EHVol Study
Yasmine AguibiD, Mona AlloubaiD, Alaa Afify, Sarah HalawaiD, Mohamed El-Khatib, Marina Sous, Aya A. GalaliD, Eslam Abdelrahman, Nairouz ShehataiD, Amr El Sawy, Mohamed ElMaghawry, Shehab AnweriD, Omnia KameliD, Wesam El MozyiD, Hadir Khedr, Ahmed E KharabishiD, Nagwa ThabetiD, Pantazis I. TheotokisiD, Rachel J. BuchaniD, Risha GovindiD, Nicola WhiffiniD, Roddy WalshiD, Heba Aguib, Ahmed Mohamed ElGuindyiD, Declan P. O’ReganiD, , Magdi Habib YacoubiD
Abstract
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.
- Citations
- 10
- FWCI
- 0.73
- Field percentile
- top 31%
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