Prestigious science journal publishes genomics study of Azerbaijani data scientist

A research paper led by an Azerbaijani data scientist has been published in the prestigious journal Nature Communications, presenting the results of a large-scale study into genetic changes based on population data from the Gulf nation of Qatar.

The paper’s main author, Elbay Aliyev, worked on the study through a collaboration involving multiple institutes and research centres around the world, as highlighted in an article by AZERTAG covering this achievement.

The study analysed whole-genome sequencing datasets from Qatari residents, which were provided by Sidra Medicine, a Doha-based hospital and medical research centre.

The broader Nature family of publications is widely regarded as the world’s leading multidisciplinary scientific journal network, publishing top-tier research with significant global impact. Nature Communications is one of several journals under the scientific arm of the Springer publishing group, with the weekly Nature journal serving as its flagship publication.

The research focuses on identifying and analysing major genetic changes—known as structural variants—where segments of DNA are deleted, inserted, or rearranged in individuals living in Qatar.

According to the study’s lead author, Qatari residents more frequently carry the same genetic change in both copies of a gene, as marriages between relatives are relatively common in the small Gulf state. This made it possible for researchers to identify more than 180 cases in which a gene is effectively “knocked out.”

The findings show that these changes can, indeed, alter bodily functions. Analysis of individuals with highly unusual health indicators—such as extreme thinness or obesity—revealed, for example, several significant DNA deletions that strongly affect body weight and certain laboratory markers, including creatinine levels.

Another major outcome of the study was the discovery that approximately 3.2% of residents carry genetic changes for which physicians typically issue clinically significant warnings. About one-third of those findings were identified as large structural variants.

Aliyev, who is being published for the third time in the prestigious journal with the current work his first as leading author, said the study not only offers a detailed “map” of large-scale genetic changes within the Qatari population, but also demonstrates how such data can improve understanding of health risks and diseases that are more prevalent among specific, and often understudied, populations—insights that can later be taken into account by policymakers.

Aliyev began working on the wide-ranging project, which analysed DNA from 6,141 individuals, during his tenure at Sidra Medicine. He has since moved to the Department of Biomedical Informatics at the University of Colorado in the United States. He is a graduate of the Applied Mathematics and Cybernetics Department at Baku State University.

According to AZERTAG, another contributor to the study was fellow Azerbaijani data scientist Taghi Aliyev. Now based in the Netherlands and employed at ABN Amro Bank, he contributed expertise from his previous research into applications of artificial intelligence in healthcare. His work on the project was associated with Maastricht University (Netherlands) and CERN (Switzerland.)

By Nazrin Sadigova