Genome-wide sequence analyses of ethnic populations across Russia

doi:10.1016/j.ygeno.2019.03.007

. 2020 Jan;112(1):442-458.

doi: 10.1016/j.ygeno.2019.03.007. Epub 2019 Mar 19.

Genome-wide sequence analyses of ethnic populations across Russia

Daria V Zhernakova¹, Vladimir Brukhin², Sergey Malov³, Taras K Oleksyk⁴, Klaus Peter Koepfli⁵, Anna Zhuk⁶, Pavel Dobrynin⁵, Sergei Kliver², Nikolay Cherkasov², Gaik Tamazian², Mikhail Rotkevich², Ksenia Krasheninnikova², Igor Evsyukov², Sviatoslav Sidorov², Anna Gorbunova⁷, Ekaterina Chernyaeva², Andrey Shevchenko², Sofia Kolchanova⁸, Alexei Komissarov², Serguei Simonov², Alexey Antonik², Anton Logachev², Dmitrii E Polev⁹, Olga A Pavlova⁹, Andrey S Glotov¹⁰, Vladimir Ulantsev¹¹, Ekaterina Noskova¹², Tatyana K Davydova¹³, Tatyana M Sivtseva¹⁴, Svetlana Limborska¹⁵, Oleg Balanovsky¹⁶, Vladimir Osakovsky¹⁴, Alexey Novozhilov¹⁷, Valery Puzyrev¹⁸, Stephen J O'Brien¹⁹

Affiliations

¹ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: dashazhernakova@gmail.com.
² Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation.
³ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Department of Mathematics, St. Petersburg Electrotechnical University, St. Petersburg, Russian Federation.
⁴ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Biology Department, University of Puerto Rico at Mayaguez, Mayaguez, Puerto Rico; Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA.
⁵ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; National Zoological Park, Smithsonian Conservation Biology Institute, Washington, DC, USA.
⁶ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Vavilov Institute of General Genetics, Russian Academy of Sciences, St. Petersburg Branch, St. Petersburg, Russian Federation.
⁷ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; I.I. Mechnikov North-Western State Medical University, St. Petersburg, Russian Federation.
⁸ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Biology Department, University of Puerto Rico at Mayaguez, Mayaguez, Puerto Rico.
⁹ Centre Biobank, Research Park, St. Petersburg State University, St. Petersburg, Russian Federation.
¹⁰ Laboratory of biobanking and genomic medicine of Institute of translation biomedicine, St. Petersburg State University, St. Petersburg, Russian Federation.
¹¹ Computer Technologies Laboratory, ITMO University, St. Petersburg, Russian Federation.
¹² Computer Technologies Laboratory, ITMO University, St. Petersburg, Russian Federation; JetBrains Research, St. Petersburg, Russian Federation.
¹³ Federal State Budgetary Scietific Institution, "Yakut science center of complex medical problems", Yakutsk, Russian Federation.
¹⁴ Institute of Health, North-Eastern Federal University, Yakutsk, Russian Federation.
¹⁵ Department of Molecular Bases of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russian Federation.
¹⁶ Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russian Federation; Research Centre for Medical Genetics, Moscow, Russian Federation; Biobank of North Eurasia, Moscow, Russian Federation.
¹⁷ Department of Ethnography and Anthropology, St. Petersburg State University, St. Petersburg, Russian Federation.
¹⁸ Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science, Tomsk, Russian Federation.
¹⁹ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Guy Harvey Oceanographic Center, Halmos College of Natural Sciences and Oceanography, Nova Southeastern University, 8000 North Ocean Drive, Ft Lauderdale, Florida 33004, USA. Electronic address: lgdchief@gmail.com.

PMID: 30902755
DOI: 10.1016/j.ygeno.2019.03.007

Free article

Genome-wide sequence analyses of ethnic populations across Russia

Daria V Zhernakova et al. Genomics. 2020 Jan.

Free article

. 2020 Jan;112(1):442-458.

doi: 10.1016/j.ygeno.2019.03.007. Epub 2019 Mar 19.

Authors

Affiliations

¹ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: dashazhernakova@gmail.com.
² Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation.
³ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Department of Mathematics, St. Petersburg Electrotechnical University, St. Petersburg, Russian Federation.
⁴ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Biology Department, University of Puerto Rico at Mayaguez, Mayaguez, Puerto Rico; Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA.
⁵ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; National Zoological Park, Smithsonian Conservation Biology Institute, Washington, DC, USA.
⁶ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Vavilov Institute of General Genetics, Russian Academy of Sciences, St. Petersburg Branch, St. Petersburg, Russian Federation.
⁷ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; I.I. Mechnikov North-Western State Medical University, St. Petersburg, Russian Federation.
⁸ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Biology Department, University of Puerto Rico at Mayaguez, Mayaguez, Puerto Rico.
⁹ Centre Biobank, Research Park, St. Petersburg State University, St. Petersburg, Russian Federation.
¹⁰ Laboratory of biobanking and genomic medicine of Institute of translation biomedicine, St. Petersburg State University, St. Petersburg, Russian Federation.
¹¹ Computer Technologies Laboratory, ITMO University, St. Petersburg, Russian Federation.
¹² Computer Technologies Laboratory, ITMO University, St. Petersburg, Russian Federation; JetBrains Research, St. Petersburg, Russian Federation.
¹³ Federal State Budgetary Scietific Institution, "Yakut science center of complex medical problems", Yakutsk, Russian Federation.
¹⁴ Institute of Health, North-Eastern Federal University, Yakutsk, Russian Federation.
¹⁵ Department of Molecular Bases of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russian Federation.
¹⁶ Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russian Federation; Research Centre for Medical Genetics, Moscow, Russian Federation; Biobank of North Eurasia, Moscow, Russian Federation.
¹⁷ Department of Ethnography and Anthropology, St. Petersburg State University, St. Petersburg, Russian Federation.
¹⁸ Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science, Tomsk, Russian Federation.
¹⁹ Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, St. Petersburg, Russian Federation; Guy Harvey Oceanographic Center, Halmos College of Natural Sciences and Oceanography, Nova Southeastern University, 8000 North Ocean Drive, Ft Lauderdale, Florida 33004, USA. Electronic address: lgdchief@gmail.com.

PMID: 30902755
DOI: 10.1016/j.ygeno.2019.03.007

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.

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Genome-wide sequence analyses of ethnic populations across Russia

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Genome-wide sequence analyses of ethnic populations across Russia

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