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Decoding a highly mixed Kazakh genome

Published version
Peer-reviewed

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Authors

Seidualy, Madina 
Blazyte, Asta 
Jeon, Sungwon 
Bhak, Youngjune 
Jeon, Yeonsu 

Abstract

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.

Description

Keywords

Original Investigation

Journal Title

Human Genetics

Conference Name

Journal ISSN

0340-6717
1432-1203

Volume Title

139

Publisher

Springer Berlin Heidelberg
Sponsorship
U-K BRAND Research Fund (1.190007.01)
Ulsan City Research Fund (1.190033.01)