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Genome-wide sequence analyses of ethnic populations across Russia

2019; Elsevier BV; Volume: 112; Issue: 1 Linguagem: Inglês

10.1016/j.ygeno.2019.03.007

1089-8646

Daria V. Zhernakova, Vladimir Brukhin, Sergey V. Malov, Tarás K. Oleksyk, Klaus Koepfli, Anna S. Zhuk, Pavel Dobrynin, Sergei Kliver, Nikolay Cherkasov, Gaik Tamazian, Mikhail Rotkevich, Ksenia Krasheninnikova, Igor Evsyukov, Sviatoslav Sidorov, А. В. Горбунова, Ekaterina Chernyaeva, Andrey Shevchenko, Sofia M. Kolchanova, A. S. Komissarov, Serguei Simonov, Alexey Antonik, Anton Logachev, Dmitrii E. Polev, Olga Pavlova, Аndrey S. Glotov, Vladimir Ulantsev, Ekaterina Noskova, Tatyana K. Davydova, Tatyana M. Sivtseva, Limborskaia Sa, Oleg Balanovsky, Vladimir Osakovsky, Alexey Novozhilov, В. П. Пузырев, Stephen J. O’Brien,

Genetic Associations and Epidemiology

The Russian Federation is the largest and one of the most ethnically diverse countries in the world, however no centralized reference database of genetic variation exists to date. Such data are crucial for medical genetics and essential for studying population history. The Genome Russia Project aims at filling this gap by performing whole genome sequencing and analysis of peoples of the Russian Federation. Here we report the characterization of genome-wide variation of 264 healthy adults, including 60 newly sequenced samples. People of Russia carry known and novel genetic variants of adaptive, clinical and functional consequence that in many cases show allele frequency divergence from neighboring populations. Population genetics analyses revealed six phylogeographic partitions among indigenous ethnicities corresponding to their geographic locales. This study presents a characterization of population-specific genomic variation in Russia with results important for medical genetics and for understanding the dynamic population history of the world's largest country.