The Pioneer Advantage: Filling the blank spots on the map of genome diversity in Europe.

The Pioneer Advantage: Filling the blank spots on the map of genome diversity in Europe.
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先驱优势:填补欧洲基因组多样性地图上的空白点。

DOI:
10.1093/gigascience/giac081
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发表时间:
2022-09-09
期刊:
影响因子:
9.2
通讯作者:
--
中科院分区:
生物学2区
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--
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记录基因组多样性对当地生物医学界非常重要,并有助于发展精确和个性化的医学。目前,来自欧洲的数万个全基因组序列是公开可用的,但其中大多数代表了欧洲发达国家的种群。由于缺乏数据共享,现有数据分布不均的情况进一步恶化。最近在东欧进行的全基因组研究,一个在乌克兰,一个在俄罗斯,表明东欧的当地基因组多样性和种群结构在历史上没有得到充分的体现。在这些研究中发现的意想不到的丰富的基因组变异,与其说是他们种群内高度变异的结果,不如说是由于“先锋优势”。我们发现了更多的变异,因为我们是第一个在东欧基因组库中进行探索的人。这一简单的比较强调了将剩余的地理基因组沙漠从人类基因组多样性的世界地图上移除的重要性。
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.
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