Whole-Genome Sequencing and Genomic Variant Analysis of Kazakh Individuals

Kairov U. Molkenov A. Sharip A. Rakhimova S. Seidualy M. Rhie A. Kozhamkulov U. Zhabagin M. Kim J.-I. Lee J.H. Terwilliger J.D. Seo J.-S. Zhumadilov Z. Akilzhanova A.
11 July 2022 Frontiers Media S.A.

Frontiers in Genetics
2022 #13

Kazakhstan, the ninth-largest country in the world, is located along the Great Silk Road and connects Europe with Asia. Historically, its territory has been inhabited by nomadic tribes, and modern-day Kazakhstan is a multiethnic country with a dominant Kazakh population. We sequenced and analyzed the genomes of five ethnic Kazakhs at high coverage using the Illumina HiSeq2000 next-generation sequencing platform. The five Kazakhs yielded a total number of base pairs ranging from 87,308,581,400 to 107,526,741,301. On average, 99.06% were properly mapped. Based on the Het/Hom and Ti/Tv ratios, the quality of the genomic data ranged from 1.35 to 1.49 and from 2.07 to 2.08, respectively. Genetic variants were identified and annotated. Functional analysis of the genetic variants identified several variants that were associated with higher risks of metabolic and neurogenerative diseases. The present study showed high levels of genetic admixture of Kazakhs that were comparable to those of other Central Asians. These whole-genome sequence data of healthy Kazakhs could contribute significantly to biomedical studies of common diseases as their findings could allow better insight into the genotype–phenotype relations at the population level. Copyright

genome analysis , human genetics , Kazakh whole genomes , Kazakhstan , next-generation sequencing , whole-genome sequence (WGS) , whole-genome sequence analysis

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Laboratory of Bioinformatics and Systems Biology, Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Nur-Sultan, Kazakhstan
Laboratory of Genomic and Personalized Medicine, National Laboratory Astana, Nazarbayev University, Nur-Sultan, Kazakhstan
Ilchun Genomic Medicine Institute, Seoul National University, Seoul, South Korea
Sergievsky Center, Departments of Neurology and Epidemiology, Taub Institute, Columbia University, New York City, NY, United States
Departments of Genetics and Development and Psychiatry, Sergievsky Center, Columbia University, New York City, NY, United States
School of Medicine, Nazarbayev University, Nur-Sultan, Kazakhstan

Laboratory of Bioinformatics and Systems Biology
Laboratory of Genomic and Personalized Medicine
Ilchun Genomic Medicine Institute
Sergievsky Center
Departments of Genetics and Development and Psychiatry
School of Medicine

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