Whole-genome sequencing data of Kazakh individuals

Kairov, Ulykbek; Molkenov, Askhat; Rakhimova, Saule; Kozhamkulov, Ulan; Sharip, Aigul; Karabayev, Daniyar; Daniyarov, Asset; H.Lee, Joseph; Terwilliger, Joseph D.; Akilzhanova, Ainur; Zhumadilov, Zhaxybay

doi:10.1186/s13104-021-05464-4

Cited by 2 publications

(1 citation statement)

References 14 publications

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“…Sequencing data have been uploaded to the NCBI SRA read archive under accession number PRJNA374772 ( Kairov et al, 2021 ). The VCF file that contains all the genomic variants described in this study is available upon request.…”

Section: Resultsmentioning

confidence: 99%

Whole-Genome Sequencing and Genomic Variant Analysis of Kazakh Individuals

et al. 2022

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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.

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Section: Resultsmentioning

confidence: 99%

Whole-Genome Sequencing and Genomic Variant Analysis of Kazakh Individuals

et al. 2022

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A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants

Choi,

Kim,

Kim

et al. 2023

Sci. Adv.

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Underrepresentation of non-European (EUR) populations hinders growth of global precision medicine. Resources such as imputation reference panels that match the study population are necessary to find low-frequency variants with substantial effects. We created a reference panel consisting of 14,393 whole-genome sequences including more than 11,000 Asian individuals. Genome-wide association studies were conducted using the reference panel and a population-specific genotype array of 72,298 subjects for eight phenotypes. This panel yields improved imputation accuracy of rare and low-frequency variants within East Asian populations compared with the largest reference panel. Thirty-nine previously unidentified associations were found, and more than half of the variants were East Asian specific. We discovered genes with rare protein-altering variants, including LTBP1 for height and GPR75 for body mass index, as well as putative regulatory mechanisms for rare noncoding variants with cell type–specific effects. We suggest that this dataset will add to the potential value of Asian precision medicine.

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Whole-genome sequencing data of Kazakh individuals

Cited by 2 publications

References 14 publications

Whole-Genome Sequencing and Genomic Variant Analysis of Kazakh Individuals

Whole-Genome Sequencing and Genomic Variant Analysis of Kazakh Individuals

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants

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