MGeND：一个整合日本临床和基因组信息的数据库。
MGeND: an integrated database for Japanese clinical and genomic information.
作者信息
Kamada Mayumi, Nakatsui Masahiko, Kojima Ryosuke, Nohara Sachio, Uchino Eiichiro, Tanishima Shigeki, Sugiyama Masaya, Kosaki Kenjiro, Tokunaga Katsushi, Mizokami Masashi, Okuno Yasushi
机构信息
1Department of Biomedical Data Intelligence, Graduate School of Medicine, Kyoto University, 53 Shogoin-Kawaharacho. Sakyo-ku, Kyoto, 606-8507 Japan.
2Mitsubishi Space Software Co., Ltd., 5-4-36 Tsukaguchi-honmachi, Amagasaki, Hyogo 661-0001 Japan.
出版信息
Hum Genome Var. 2019 Dec 6;6:53. doi: 10.1038/s41439-019-0084-4. eCollection 2019.
To promote the implementation of genomic medicine, we developed an integrated database, the Medical Genomics Japan Variant Database (MGeND). In its first release, MGeND provides data regarding genomic variations in Japanese individuals, collected by research groups in five disease fields. These variations consist of curated SNV/INDEL variants and susceptibility variants for diseases established by genome-wide association study analysis. Furthermore, we recorded the frequencies of HLA alleles in infectious disease populations.
为促进基因组医学的实施，我们开发了一个综合数据库——日本医学基因组变异数据库（MGeND）。在其首次发布时，MGeND提供了由五个疾病领域的研究小组收集的日本个体基因组变异数据。这些变异包括经整理的单核苷酸变异/插入缺失变异以及通过全基因组关联研究分析确定的疾病易感性变异。此外，我们记录了传染病人群中人类白细胞抗原（HLA）等位基因的频率。
Zotero 插件