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Decoding a highly mixed Kazakh genome.
Human Genetics ( IF 3.8 ) Pub Date : 2020-02-19 , DOI: 10.1007/s00439-020-02132-8
Madina Seidualy 1 , Asta Blazyte 1 , Sungwon Jeon 1, 2 , Youngjune Bhak 1, 2 , Yeonsu Jeon 1, 2 , Jungeun Kim 3 , Anders Eriksson 4, 5 , Dan Bolser 6 , Changhan Yoon 1, 2 , Andrea Manica 7 , Semin Lee 1, 2 , Jong Bhak 1, 2, 3, 8
Affiliation  

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.

中文翻译:

解码高度混合的哈萨克人基因组。

我们提供哈萨克全基因组序列(MJS),并使用迄今为止可提供的最大的哈萨克比较基因组数据进行分析。我们发现102,240新型SNV和高水平的杂合性。ADMIXTURE分析证实,该个体的很大一部分变异来自非洲和大洋洲以外的所有大洲。主成分分析表明,邻近的卡尔梅克族,乌兹别克族和吉尔吉斯族与MJS基因组具有最强的相似性,这反映了相当近期的哈萨克历史。MJS的线粒体单倍体J1c2可能代表了欧洲和近东地区对中亚的早期影响。这也得到了与欧洲表型特征相关的杂合单核苷酸多态性和ADMIXTURE推断的哈萨克族祖先组成的惊人相似。外加剂(f3)分析表明,MJS'
更新日期:2020-04-21
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