Taras K Oleksyk1,2,3, Walter W Wolfsberger1,2,3, Alexandra M Weber4, Khrystyna Shchubelka2,3,5, Olga T Oleksyk6, Olga Levchuk7, Alla Patrus7, Nelya Lazar7, Stephanie O Castro-Marquez2,3, Yaroslava Hasynets1, Patricia Boldyzhar5, Mikhailo Neymet8, Alina Urbanovych9, Viktoriya Stakhovska10, Kateryna Malyar11, Svitlana Chervyakova12, Olena Podoroha13, Natalia Kovalchuk14, Juan L Rodriguez-Flores15, Weichen Zhou4, Sarah Medley2, Fabia Battistuzzi2, Ryan Liu16, Yong Hou16, Siru Chen16, Huanming Yang16, Meredith Yeager17, Michael Dean17, Ryan E Mills4,18, Volodymyr Smolanka5. 1. Department of Biological Sciences, Uzhhorod National University, 32 Voloshyna Str., Uzhhorod 88000, Ukraine. 2. Department of Biological Sciences,Oakland University, Dodge Hall, 118 Library Dr., Rochester, MI 48309, USA. 3. Departamento de Biología, Universidad de Puerto Rico, Mayagüez, PR 00682, USA. 4. Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA. 5. Department of Medicine, Uzhhorod National University, Uzhhorod 88000, Ukraine. 6. A. Novak Transcarpathian Regional Clinical Hospital, Uzhhorod 88000, Ukraine. 7. Astra Dia Inc., Uzhhorod 88000, Ukraine. 8. Velyka Kopanya Family Hospital, Transcarpatia 90330, Ukraine. 9. Lviv National Medical University, Lviv 79010, Ukraine. 10. Zhytomyr Regional Hospital, Zhytomyr 10002, Ukraine. 11. I.I.Mechnikov Dnipro Regional Clinical Hospital, Dnipro 49000, Ukraine. 12. Chernihiv Regional Hospital, Chernihiv 14039, Ukraine. 13. Sumy Diagnostic Center, Sumy 40000, Ukraine. 14. Rivne Regional Specialized Hospital of Radiation Protection, Rivne 33028, Ukraine. 15. Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA. 16. BGI Shenzhen, Shenzhen, 518083, China. 17. Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA. 18. Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.
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.
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.
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