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 the public data release. DNBSEQ-G50 sequences, and genotypes by an Illumina GWAS chip were cross-validated on multiple samples, and additionally referenced to one sample that has been resequenced by Illumina NovaSeq6000 S4 at high coverage. The genome data has been searched for genomic variation represented in this population, and a number of variants have been reported: large structural variants, indels, CNVs, SNPs and microsatellites. This study provides the largest to-date survey of genetic variation in Ukraine, creating a public reference resource aiming to provide data for historic and medical research in a large understudied population. While most of the common variation is shared with other European populations, this survey of population variation contributes a number of novel SNPs and structural variants that have not been reported in the gnomAD/1KG databases representing global distribution of genomic variation. This data will contribute a wealth of new information bringing forth different risk and/or protective alleles. The newly discovered low frequency and local variants can be added to the current genotyping arrays for genome wide association studies, clinical trials, and in genome assessment of proliferating cancer cells.

中文翻译：

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乌克兰的基因组多样性

这项合作努力的主要目标是为东欧以前代表性不足的人群提供全基因组数据，并通过不同技术获得的同一个体的基因组序列和基因型对数据进行交叉验证。我们从代表乌克兰主要地区的征得同意的个人那里收集了97个基因组级DNA样本，并同意进行公开数据发布。DNBSEQ-G50序列和Illumina GWAS芯片的基因型已在多个样品上交叉验证，并另外参考了一个由Illumina NovaSeq6000 S4在高覆盖率下重新测序的样品。已经搜索了基因组数据以寻找该群体中代表的基因组变异，并且已经报道了许多变体：大的结构变体，插入缺失，CNV，SNP和微卫星。这项研究提供了乌克兰最大的遗传变异最新调查，创建了一个公共参考资源，旨在为大量未充分研究的人口提供历史和医学研究数据。尽管大多数常见变异是与其他欧洲人群共享的，但这项针对人群变异的调查贡献了一些新颖的SNP和结构变异，而这些代表基因组变异的全球分布的gnomAD / 1KG数据库中尚未报道。该数据将贡献大量新信息，带来不同的风险和/或保护性等位基因。可以将新发现的低频和局部变异体添加到当前的基因分型阵列中，以进行全基因组关联研究，临床试验以及增殖癌细胞的基因组评估。