Background The main goal of this collaborative effort is to provide genome-wide data for the previously underrepresented population in Eastern Europe, and to provide cross-validation of the data from genome sequences and genotypes of the same individuals acquired by different technologies. We collected 97 genome-grade DNA samples from consented individuals representing major regions of Ukraine that were consented for public data release. BGISEQ-500 sequence data and genotypes by an Illumina GWAS chip were cross-validated on multiple samples and additionally referenced to 1 sample that has been resequenced by Illumina NovaSeq6000 S4 at high coverage. Results The genome data have been searched for genomic variation represented in this population, and a number of variants have been reported: large structural variants, indels, copy number variations, single-nucletide polymorphisms, and microsatellites. To our knowledge, this study provides the largest to-date survey of genetic variation in Ukraine, creating a public reference resource aiming to provide data for medical research in a large understudied population. Conclusions Our results indicate that the genetic diversity of the Ukrainian population is uniquely shaped by evolutionary and demographic forces and cannot be ignored in future genetic and biomedical studies. These data will contribute a wealth of new information bringing forth a wealth of novel, endemic and medically related alleles.

中文翻译：

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乌克兰的基因组多样性

背景这项合作努力的主要目标是为东欧先前代表性不足的人群提供全基因组数据，并对通过不同技术获得的同一个体的基因组序列和基因型数据进行交叉验证。我们从代表乌克兰主要地区的同意个人收集了 97 个基因组级 DNA 样本，这些个人同意公开数据发布。Illumina GWAS 芯片的 BGISEQ-500 序列数据和基因型在多个样本上进行了交叉验证，另外还参考了 1 个样本，该样本已由 Illumina NovaSeq6000 S4 以高覆盖率重新测序。结果 已在基因组数据中搜索了该群体中代表的基因组变异，并报告了许多变异：大型结构变异、插入缺失、拷贝数变异、单核苷酸多态性和微卫星。据我们所知，这项研究提供了迄今为止最大的乌克兰遗传变异调查，创建了一个公共参考资源，旨在为大量未研究人群的医学研究提供数据。结论 我们的研究结果表明，乌克兰人口的遗传多样性受到进化和人口力量的独特影响，在未来的遗传和生物医学研究中不容忽视。这些数据将提供大量新信息，从而产生大量新颖的、地方性的和医学相关的等位基因。创建一个公共参考资源，旨在为大量未研究人群的医学研究提供数据。结论 我们的研究结果表明，乌克兰人口的遗传多样性受到进化和人口力量的独特影响，在未来的遗传和生物医学研究中不容忽视。这些数据将提供大量新信息，从而产生大量新颖的、地方性的和医学相关的等位基因。创建一个公共参考资源，旨在为大量未研究人群的医学研究提供数据。结论 我们的研究结果表明，乌克兰人口的遗传多样性受到进化和人口力量的独特影响，在未来的遗传和生物医学研究中不容忽视。这些数据将提供大量新信息，从而产生大量新颖的、地方性的和医学相关的等位基因。