Research output: Contribution to journal › Article › peer-review
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.Research output: Contribution to journal › Article › peer-review
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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