Uzhhorod National University, Uzhhorod, 88000, Ukraine.
Oakland University, Department of Biological Sciences, Rochester, 48309 MI 48309-4479, USA.
Gigascience. 2022 Sep 9;11. doi: 10.1093/gigascience/giac081.
Documenting genome diversity is important for the local biomedical communities and instrumental in developing precision and personalized medicine. Currently, tens of thousands of whole-genome sequences from Europe are publicly available, but most of these represent populations of developed countries of Europe. The uneven distribution of the available data is further impaired by the lack of data sharing. Recent whole-genome studies in Eastern Europe, one in Ukraine and one in Russia, demonstrated that local genome diversity and population structure from Eastern Europe historically had not been fully represented. An unexpected wealth of genomic variation uncovered in these studies was not so much a consequence of high variation within their population, but rather due to the "pioneer advantage." We discovered more variants because we were the first to prospect in the Eastern European genome pool. This simple comparison underscores the importance of removing the remaining geographic genome deserts from the rest of the world map of the human genome diversity.
记录基因组多样性对于当地生物医学社区非常重要，有助于开发精准医疗和个性化医疗。目前，数以万计的欧洲全基因组序列可供公开使用，但其中大多数代表的是欧洲发达国家的人群。由于缺乏数据共享，可用数据的分布不均进一步受到影响。最近在东欧进行的两项全基因组研究，一项在乌克兰，一项在俄罗斯，表明东欧的当地基因组多样性和人口结构历史上没有得到充分体现。这些研究中发现的出人意料的丰富基因组变异与其说是其人口内高度变异的结果，不如说是由于“先驱优势”。我们发现了更多的变异，是因为我们是第一批在东欧基因组库中进行探索的人。这一简单的比较强调了消除世界人类基因组多样性图谱上剩余的地理基因组荒地的重要性。
