link to paper: https://www.sciencedirect.com/science/article/pii/S0888754318307419?dgcid=coauthor
Sequencing the human genome is an ongoing process as there is no one single human genome. Understanding genomic variation between and within different populations of modern humans allows scientists to pinpoint specific changes that allow different people to thrive in different environments. One such study published in Genomics in January 2020 by Zhernakova et al. set out to fill one of the largest missing pieces in this human puzzle: comparative genomics of the different peoples of the Russian Federation.
Spanning 11 time zones, 2 continents, and 195 distinct ethnic groups, Russia is also the 9th most populous country in the world. As such, it is of particular interest for investigating population history, allele divergence, as well as being the country linking our species to both Neanderthals and Denisovans. To study population history, Zhernakova and colleagues analyzed the genome 264 individuals from six broad regions across Russia and looked for ancestry-related markers as well as disease-associated mutations and 'loss-of-function' variants. These include SNP's, long and short indels, copy number variants, and segmental duplications.
Phylogeography (ancestry) of the Russian people showed close relatedness to Europeans in the Western Russian and Volga/Ural groups, close relatedness to Iranians and Western Asia in the Caucasus group, close relatedness to Southeast Asia in the Eastern Siberian Groups, and close relatedness to Indo-aryan peoples in the Western Siberia group. Medically, the Novgorod-Pskov populations are closely related to Eastern and Western Europe, but distinct from them while the Yakut population was the most distinct of any Russian group. This study illustrates the inherent genetic diversity and mixed background of the largest country on Earth.
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