First Egyptian Human Genome Reference

All men are equal, and still, we are all unique. This is partly because of our upbringing and environment, but also because of the origin of our genes, that are encoded in the DNA, the blueprint of life.

Towards this, overall 270 billion DNA bases were fed into the latest software tools to construct a de novo assembly of a modern Egyptian genome. The Egyptian genome reference, Egyptref, was then generated by complementing this personal genome with a comprehensive catalog of genetic variation in more than 100 Egyptians.

 

This landmark study and the release of the Egyptian population genome reference is an essential step towards a comprehensive, genome-wide knowledge base that will lay the foundation for identification of a robust Egyptian and regional genome, while contributing to our understanding of the world’s genetic variations. The wealth of information it provides can be immediately utilized to study in-depth personal genomics and common Egyptian genetics and its impact on molecular basis of traits and disease risk. This reference will pave the way towards a better understanding of the Egyptian, African and global genomic landscape for precision medicine. It is anticipated that this collaborative work will continue and be expanded upon with multiple institution collaborations, including the Institute of Global Health and Human Ecology at the American University in Cairo, where Salama is now faculty. These and other studies are key to the Institute’s Precision Health mission.