Population genetic considerations for using biobanks as international resources in the pandemic era and beyond.
Population genetic considerations for using biobanks as international resources in the pandemic era and beyond.
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DOI：
10.1186/s12864-021-07618-x
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发表时间：
2021-05-17
期刊：
影响因子：
4.4
通讯作者：
Elhaik E
中科院分区：
文献类型：
--
作者：
Carress H;Lawson DJ;Elhaik E
在过去的几年里，基因组生物库和大规模的基因组数据荟萃分析的兴起，有望揭示健康和疾病的遗传基础。然而，欧洲人在基因组研究中的过度代表性不仅限制了对疾病风险的全球理解，而且还抑制了对携带者和患者之间基因组差异的可行研究。虽然社区已经同意需要更多样化的样本，但盲目地增加多样性是不够的;必须对多样性进行量化、比较和注释，以获得洞察力。来自不同生物库的基因注释需要具有可比性和可计算性，并且由于隐私问题，需要在不访问原始数据的情况下进行操作。可比性对于定期研究和在应对大流行病方面进行国际比较都是关键。在这里，我们评估最常见的基因组工具，用于描绘人口结构的标准化和可比的方式的适当性。最终目标是减少混淆的影响，并从遗传效应对不同人群表型的真正变化中学习，这将提高生物库的价值（本地和国际），提高关联分析的准确性，并为发展工作提供信息。在线版本包含补充材料，可通过10.1186/s12864-021-07618-x获得。
The past years have seen the rise of genomic biobanks and mega-scale meta-analysis of genomic data, which promises to reveal the genetic underpinnings of health and disease. However, the over-representation of Europeans in genomic studies not only limits the global understanding of disease risk but also inhibits viable research into the genomic differences between carriers and patients. Whilst the community has agreed that more diverse samples are required, it is not enough to blindly increase diversity; the diversity must be quantified, compared and annotated to lead to insight. Genetic annotations from separate biobanks need to be comparable and computable and to operate without access to raw data due to privacy concerns. Comparability is key both for regular research and to allow international comparison in response to pandemics. Here, we evaluate the appropriateness of the most common genomic tools used to depict population structure in a standardized and comparable manner. The end goal is to reduce the effects of confounding and learn from genuine variation in genetic effects on phenotypes across populations, which will improve the value of biobanks (locally and internationally), increase the accuracy of association analyses and inform developmental efforts. The online version contains supplementary material available at 10.1186/s12864-021-07618-x.
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影响因子：
64.8
作者：
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2.7
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Whitton T
影响因子：
9.2
作者：
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