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Genome-wide sequence analyses of ethnic populations across Russia. / Zhernakova, Daria V.; Brukhin, Vladimir; Malov, Sergey; Oleksyk, Taras K.; Koepfli, Klaus Peter; Zhuk, Anna; Dobrynin, Pavel; Kliver, Sergei; Cherkasov, Nikolay; Tamazian, Gaik; Rotkevich, Mikhail; Krasheninnikova, Ksenia; Evsyukov, Igor; Sidorov, Sviatoslav; Gorbunova, Anna; Chernyaeva, Ekaterina; Shevchenko, Andrey; Kolchanova, Sofia; Komissarov, Alexei; Simonov, Serguei; Antonik, Alexey; Logachev, Anton; Polev, Dmitrii E.; Pavlova, Olga A.; Glotov, Andrey S.; Ulantsev, Vladimir; Noskova, Ekaterina; Davydova, Tatyana K.; Sivtseva, Tatyana M.; Limborska, Svetlana; Balanovsky, Oleg; Osakovsky, Vladimir; Novozhilov, Alexey; Puzyrev, Valery; O'Brien, Stephen J.

In: Genomics, Vol. 112, No. 1, 01.2020, p. 442-458.

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Zhernakova, Daria V. ; Brukhin, Vladimir ; Malov, Sergey ; Oleksyk, Taras K. ; Koepfli, Klaus Peter ; Zhuk, Anna ; Dobrynin, Pavel ; Kliver, Sergei ; Cherkasov, Nikolay ; Tamazian, Gaik ; Rotkevich, Mikhail ; Krasheninnikova, Ksenia ; Evsyukov, Igor ; Sidorov, Sviatoslav ; Gorbunova, Anna ; Chernyaeva, Ekaterina ; Shevchenko, Andrey ; Kolchanova, Sofia ; Komissarov, Alexei ; Simonov, Serguei ; Antonik, Alexey ; Logachev, Anton ; Polev, Dmitrii E. ; Pavlova, Olga A. ; Glotov, Andrey S. ; Ulantsev, Vladimir ; Noskova, Ekaterina ; Davydova, Tatyana K. ; Sivtseva, Tatyana M. ; Limborska, Svetlana ; Balanovsky, Oleg ; Osakovsky, Vladimir ; Novozhilov, Alexey ; Puzyrev, Valery ; O'Brien, Stephen J. / Genome-wide sequence analyses of ethnic populations across Russia. In: Genomics. 2020 ; Vol. 112, No. 1. pp. 442-458.

BibTeX

@article{354e782c7cdd4ec79cdb517f3143403b,
title = "Genome-wide sequence analyses of ethnic populations across Russia",
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.",
keywords = "Adult, Communicable Diseases/genetics, Demography, Genetic Variation, Haplotypes, Humans, INDEL Mutation, Pharmacogenetics, Phenotype, Phylogeography, Polymorphism, Single Nucleotide, Russia/ethnology, Selection, Genetic, Whole Genome Sequencing",
author = "Zhernakova, {Daria V.} and Vladimir Brukhin and Sergey Malov and Oleksyk, {Taras K.} and Koepfli, {Klaus Peter} and Anna Zhuk and Pavel Dobrynin and Sergei Kliver and Nikolay Cherkasov and Gaik Tamazian and Mikhail Rotkevich and Ksenia Krasheninnikova and Igor Evsyukov and Sviatoslav Sidorov and Anna Gorbunova and Ekaterina Chernyaeva and Andrey Shevchenko and Sofia Kolchanova and Alexei Komissarov and Serguei Simonov and Alexey Antonik and Anton Logachev and Polev, {Dmitrii E.} and Pavlova, {Olga A.} and Glotov, {Andrey S.} and Vladimir Ulantsev and Ekaterina Noskova and Davydova, {Tatyana K.} and Sivtseva, {Tatyana M.} and Svetlana Limborska and Oleg Balanovsky and Vladimir Osakovsky and Alexey Novozhilov and Valery Puzyrev and O'Brien, {Stephen J.}",
year = "2020",
month = jan,
doi = "10.1016/j.ygeno.2019.03.007",
language = "English",
volume = "112",
pages = "442--458",
journal = "Genomics",
issn = "0888-7543",
publisher = "Elsevier",
number = "1",

}

RIS

TY - JOUR

T1 - Genome-wide sequence analyses of ethnic populations across Russia

AU - Zhernakova, Daria V.

AU - Brukhin, Vladimir

AU - Malov, Sergey

AU - Oleksyk, Taras K.

AU - Koepfli, Klaus Peter

AU - Zhuk, Anna

AU - Dobrynin, Pavel

AU - Kliver, Sergei

AU - Cherkasov, Nikolay

AU - Tamazian, Gaik

AU - Rotkevich, Mikhail

AU - Krasheninnikova, Ksenia

AU - Evsyukov, Igor

AU - Sidorov, Sviatoslav

AU - Gorbunova, Anna

AU - Chernyaeva, Ekaterina

AU - Shevchenko, Andrey

AU - Kolchanova, Sofia

AU - Komissarov, Alexei

AU - Simonov, Serguei

AU - Antonik, Alexey

AU - Logachev, Anton

AU - Polev, Dmitrii E.

AU - Pavlova, Olga A.

AU - Glotov, Andrey S.

AU - Ulantsev, Vladimir

AU - Noskova, Ekaterina

AU - Davydova, Tatyana K.

AU - Sivtseva, Tatyana M.

AU - Limborska, Svetlana

AU - Balanovsky, Oleg

AU - Osakovsky, Vladimir

AU - Novozhilov, Alexey

AU - Puzyrev, Valery

AU - O'Brien, Stephen J.

PY - 2020/1

Y1 - 2020/1

N2 - 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.

AB - 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.

KW - Adult

KW - Communicable Diseases/genetics

KW - Demography

KW - Genetic Variation

KW - Haplotypes

KW - Humans

KW - INDEL Mutation

KW - Pharmacogenetics

KW - Phenotype

KW - Phylogeography

KW - Polymorphism, Single Nucleotide

KW - Russia/ethnology

KW - Selection, Genetic

KW - Whole Genome Sequencing

UR - http://www.scopus.com/inward/record.url?scp=85065593562&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/cb683cfb-8496-3ed6-96fe-6691a60f5b1d/

U2 - 10.1016/j.ygeno.2019.03.007

DO - 10.1016/j.ygeno.2019.03.007

M3 - Article

C2 - 30902755

AN - SCOPUS:85065593562

VL - 112

SP - 442

EP - 458

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 1

ER -

ID: 52742971