It is well-established that despite our basic similarities as humans, we can still boast an immense uniqueness and richness in our genetic origins encoded in DNA.
Our genetic makeup determines our appearance, susceptibility to diseases, and response to drug treatments. However, the North Africa region, which is home to a population of about 250 million people, is still missing a genome reference.
In a paper published last week in Nature Communications, a team of Egyptian and German researchers have filled this gap by constructing the first Egyptian, and North African, genome reference.
The team’s findings suggest that differences in the occurrence and combination of genetic variants between Egyptians and Europeans may compromise the transferability of European ancestry-based genetic disease risk. As a result, this underscores the need for multi-ethnic genome references to help with medical research relating to diseases.
About 270 billion DNA bases were fed into the latest software tools, to assemble a modern Egyptian genome with the reference then generated. This was completed by complementing the personal genome with a comprehensive catalogue of genetic variations in more than 100 Egyptians.
“This study has, and will, continue to provide a wealth of information for years to come”, says the study’s lead bio-informatician, Dr Inken Wohlers, “Not only can we confirm modern Egyptians as genetic mediators between Europe, Asia and Africa, but also their fascinating widespread shared ancestry with people from the Mediterranean to the Black Sea and Lake Victoria.”
Dr Saleh Ibrahim, of the University of Lübeck, explained that the study will improve the diagnosis of rare diseases, as well as the genetic risk assessment of common diseases, especially for Egyptians and North Africans.
Moreover, the newest sequencing technologies and latest algorithmic developments used for constructing Egyptref will reflect on technical aspects of the ongoing international sequencing projects.
This landmark study, and the release of the Egyptian population genome reference, is an essential step towards a comprehensive, genome-wide knowledge base. It is anticipated that this will lay the foundation for the identification of a robust Egyptian and regional genome. At the same time, it will contribute to our understanding of the world’s genetic variations, according to Dr Mohamed Salama, at Mansoura University’s Medical Experimental Research Center (MERC).
The wealth of information it provides can be immediately utilised to study in-depth personal genomics and common Egyptian genetics, and their impact on the 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 precise medical care.