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https://academic.oup.com/gigascience/article/10/1/giaa159/6079618
Genome diversity in Ukraine
Taras K Oleksyk, Walter W Wolfsberger, Alexandra M Weber, Khrystyna Shchubelka, Olga T Oleksyk, Olga Levchuk, Alla Patrus, Nelya Lazar, Stephanie O Castro-Marquez, Yaroslava Hasynets, Patricia Boldyzhar, Mikhailo Neymet, Alina Urbanovych, Viktoriya Stakhovska, Kateryna Malyar, Svitlana Chervyakova, Olena Podoroha, Natalia Kovalchuk, Juan L Rodriguez-Flores, Weichen Zhou, Sarah Medley, Fabia Battistuzzi, Ryan Liu, Yong Hou, Siru Chen, Huanming Yang, Meredith Yeager, Michael Dean, Ryan E Mills, Volodymyr Smolanka
Author Notes
GigaScience, Volume 10, Issue 1, January 2021, giaa159, https://doi.org/10.1093/gigascience/giaa159
Published:
13 January 2021
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Abstract
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.