The GWAS-MAP platform for aggregation of results of genome-wide association studies and the GWAS-MAP|homo database of 70 billion genetic associations of human traits.
The GWAS-MAP platform for aggregation of results of genome-wide association studies and the GWAS-MAP|homo database of 70 billion genetic associations of human traits.
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DOI：
10.18699/vj20.686
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发表时间：
2020-12
影响因子：
0.9
通讯作者：
Aulchenko YS
中科院分区：
文献类型：
--
作者：
Shashkova TI;Gorev DD;Pakhomov ED;Shadrina AS;Sharapov SZ;Tsepilov YA;Karssen LC;Aulchenko YS
每年进行数百项人类性状的全基因组关联研究（GWAS）。全球WAS的结果通常以汇总统计的形式公布。汇总统计的信息可用于多种目的-从生物学和遗传学的基础研究到寻找潜在的生物标志物和治疗靶点。虽然科学界收集的全球WAS汇总统计数据的数量正在迅速增加，但由于缺乏普遍接受的标准，这些数据的使用受到限制。特别是，希望在研究中使用GWAS汇总统计的研究人员必须意识到，这些数据分散在多个网站上，以各种格式呈现，并且通常没有质量控制。此外，每种现有的汇总统计分析工具都要求以其内部格式提供数据。为了解决这些问题，我们开发了GWAS-MAP，这是一个高通量平台，用于聚合，存储，分析，可视化和提供对区域和全基因组关联研究产生的大数据数据数据库的访问。该数据库目前包含遗传变异与人类疾病、数量性状和“组学”性状之间超过700亿个关联的信息。GWAS-MAP平台和数据库可用于研究人类疾病的病因，建立预测风险模型，并寻找潜在的生物标志物和治疗干预措施。为了展示该平台作为提取新生物学知识和建立机制假设的方法的典型应用，我们分析了静脉曲张，这是一种平均影响俄罗斯三分之一成年人的疾病。分析结果证实了这种疾病的已知流行病学关联，并使我们提出一个假设，即人血浆中MICB和CD 209蛋白水平的增加可能会增加静脉曲张的易感性。
Hundreds of genome-wide association studies (GWAS) of human traits are performed each year. The results of GWAS are often published in the form of summary statistics. Information from summary statistics can be used for multiple purposes – from fundamental research in biology and genetics to the search for potential biomarkers and therapeutic targets. While the amount of GWAS summary statistics collected by the scientific community is rapidly increasing, the use of this data is limited by the lack of generally accepted standards. In particular, the researchers who would like to use GWAS summary statistics in their studies have to become aware that the data are scattered across multiple websites, are presented in a variety of formats, and, often, were not quality controlled. Moreover, each available summary statistics analysis tools will ask for data to be presented in their own internal format. To address these issues, we developed GWAS-MAP, a high-throughput platform for aggregating, storing, analyzing, visualizing and providing access to a database of big data that result from region- and genome-wide association studies. The database currently contains information on more than 70 billion associations between genetic variants and human diseases, quantitative traits, and “omics” traits. The GWAS-MAP platform and database can be used for studying the etiology of human diseases, building predictive risk models and finding potential biomarkers and therapeutic interventions. In order to demonstrate a typical application of the platform as an approach for extracting new biological knowledge and establishing mechanistic hypotheses, we analyzed varicose veins, a disease affecting on average every third adult in Russia. The results of analysis confirmed known epidemiologic associations for this disease and led us to propose a hypothesis that increased levels of MICB and CD209 proteins in human plasma may increase susceptibility to varicose veins.