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Bhak, Jong
KOrean GenomIcs Center(KOGIC)
Research Interests
  • Geromics, genomics, bioinformatics, protein Engineering, OMICS

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Decoding a highly mixed Kazakh genome

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Title
Decoding a highly mixed Kazakh genome
Author
Seidualy, MadinaBlazyte, AstaJeon, SungwonBhak, YoungjuneJeon, YeonsuKim, JungeunEriksson, AndersBolser, DanYoon, ChanghanManica, AndreaLee, SeminBhak, Jong
Issue Date
2020-05
Publisher
SPRINGER
Citation
HUMAN GENETICS, v.139, pp.557 - 568
Abstract
We provide a Kazakh whole genome sequence (MJS) and analyses with the largest comparative Kazakh genomic data available to date. We found 102,240 novel SNVs and a high level of heterozygosity. ADMIXTURE analysis confirmed a significant proportion of variations in this individual coming from all continents except Africa and Oceania. A principal component analysis showed neighboring Kalmyk, Uzbek, and Kyrgyz populations to have the strongest resemblance to the MJS genome which reflects fairly recent Kazakh history. MJS's mitochondrial haplogroup, J1c2, probably represents an early European and Near Eastern influence to Central Asia. This was also supported by the heterozygous SNPs associated with European phenotypic features and strikingly similar Kazakh ancestral composition inferred by ADMIXTURE. Admixture (f3) analysis showed that MJS's genomic signature is best described as a cross between the Neolithic East Asian (Devil's Gate1) and the Bronze Age European (Halberstadt_LBA1) components rather than a contemporary admixture.
URI
https://scholarworks.unist.ac.kr/handle/201301/31864
URL
https://link.springer.com/article/10.1007/s00439-020-02132-8
DOI
10.1007/s00439-020-02132-8
ISSN
0340-6717
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BME_Journal Papers
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