Title

Genome-wide sequence analyses of ethnic populations across Russia

Authors

Daria V. Zhernakova, Saint Petersburg State University
Vladimir Brukhin, Saint Petersburg State University
Sergey Malov, Saint Petersburg State University
Taras K. Oleksyk, Saint Petersburg State University
Klaus Peter Koepfli, Saint Petersburg State University
Anna Zhuk, Saint Petersburg State University
Pavel Dobrynin, Saint Petersburg State University
Sergei Kliver, Saint Petersburg State University
Nikolay Cherkasov, Saint Petersburg State University
Gaik Tamazian, Saint Petersburg State University
Mikhail Rotkevich, Saint Petersburg State University
Ksenia Krasheninnikova, Saint Petersburg State University
Igor Evsyukov, Saint Petersburg State University
Sviatoslav Sidorov, Saint Petersburg State University
Anna Gorbunova, Saint Petersburg State University
Ekaterina Chernyaeva, Saint Petersburg State University
Andrey Shevchenko, Saint Petersburg State University
Sofia Kolchanova, Saint Petersburg State University
Alexei Komissarov, Saint Petersburg State University
Serguei Simonov, Saint Petersburg State University
Alexey Antonik, Saint Petersburg State University
Anton Logachev, Saint Petersburg State University
Dmitrii E. Polev, Saint Petersburg State University
Olga A. Pavlova, Saint Petersburg State University
Andrey S. Glotov, Saint Petersburg State University
Vladimir Ulantsev, Saint Petersburg National Research University of Information Technologies, Mechanics and Optics University ITMO
Ekaterina Noskova, Saint Petersburg National Research University of Information Technologies, Mechanics and Optics University ITMO
Tatyana K. Davydova, Yakut Science Centre of Complex Medical Problems SB RAMS
Tatyana M. Sivtseva, North-Eastern Federal University

Document Type

Article

Publication Date

1-1-2020

Publication Title

Genomics

ISSN

10898646

Volume

112

Issue/No.

1

First Page

442

Last Page

458

Abstract

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.

NSUWorks Citation

Zhernakova, Daria V.; Vladimir Brukhin; Sergey Malov; Taras K. Oleksyk; Klaus Peter Koepfli; Anna Zhuk; Pavel Dobrynin; Sergei Kliver; Nikolay Cherkasov; Gaik Tamazian; Mikhail Rotkevich; Ksenia Krasheninnikova; Igor Evsyukov; Sviatoslav Sidorov; Anna Gorbunova; Ekaterina Chernyaeva; Andrey Shevchenko; Sofia Kolchanova; Alexei Komissarov; Serguei Simonov; Alexey Antonik; Anton Logachev; Dmitrii E. Polev; Olga A. Pavlova; Andrey S. Glotov; Vladimir Ulantsev; Ekaterina Noskova; Tatyana K. Davydova; and Tatyana M. Sivtseva. 2020. "Genome-wide sequence analyses of ethnic populations across Russia." Genomics 112, (1): 442-458. doi:10.1016/j.ygeno.2019.03.007.

DOI

10.1016/j.ygeno.2019.03.007