Genome-wide association database developed in the Japanese Integrated Database Project
Genome-wide association database developed in the Japanese Integrated Database Project
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DOI：
10.1038/jhg.2009.68
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发表时间：
2009-09-01
影响因子：
3.5
通讯作者：
Tokunaga, Katsushi
中科院分区：
文献类型：
--
作者：
Koike, Asako;Nishida, Nao;Tokunaga, Katsushi
高通量单核苷酸多态性（SNP）分型技术的建立使全基因组关联研究（GWAS）取得了惊人的进展，并发现了与复杂疾病相关的各种新的遗传因素。我们的组织创建了一个公共存储库数据库（DB），以实现对GWAS数据的持续和密集管理，并促进研究人员之间的数据共享。在GWAS数据库中，有关研究设计、质量控制方案、等位基因频率、基因型频率和统计遗传分析结果的信息作为公开数据存储，可以自由访问，而个人基因分型数据和原始数据则作为受限数据存储，只有经过授权才能访问。所有数据都通过图形查看器呈现，旨在方便不熟悉GWAS的研究人员加速疾病相关研究。此外，资料库让使用者可以比较不同机构及不同平台所取得的不同研究结果。同样的数据也作为分布式注释系统进行管理，以便从其他数据库调用有用的数据，并将它们叠加到GWAS数据上，以帮助进行解释。可以从https://gwas.lifesciencedb.jp/访问数据库。人类遗传学杂志（2009）54,543 -546；doi: 10.1038 / jhg.2009.68;2009年7月24日在线发布
The establishment of high-throughput single-nucleotide polymorphism (SNP)-typing technologies has enabled astonishing progress to be made in genome-wide association studies (GWAS), and various novel genetic factors associated with complex diseases have been discovered. Our organization has created a public repository database (DB) to achieve a continuous and intensive management of GWAS data and to facilitate data sharing among researchers. In the GWAS DB, information on study design, quality control protocols, allele frequencies, genotype frequencies and statistical genetic analysis results are stored as publicly available data and can be accessed freely, whereas individual genotyping data and raw data are stored as restricted data and can only be accessed with authorization. All data are presented by a graphic viewer, which is designed to be user friendly for researchers who are not familiar with GWAS to accelerate disease-related studies. Furthermore, the DB allows users to compare various study results obtained by different institutions and on different platforms. The same data are also managed as a distributed annotation system to call up useful data from other DBs and to superimpose them on the GWAS data for help in interpretation. The DB is accessible at https://gwas.lifesciencedb.jp/. Journal of Human Genetics (2009) 54, 543-546; doi:10.1038/jhg.2009.68; published online 24 July 2009