MGeND: an integrated database for Japanese clinical and genomic information.,Human Genome Variation

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MGeND: an integrated database for Japanese clinical and genomic information.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-12-06 , DOI: 10.1038/s41439-019-0084-4
Mayumi Kamada ₁ , Masahiko Nakatsui ₁ , Ryosuke Kojima ₁ , Sachio Nohara ₂ , Eiichiro Uchino ₁ , Shigeki Tanishima ₂ , Masaya Sugiyama ₃ , Kenjiro Kosaki ₄ , Katsushi Tokunaga _{5,

6} , Masashi Mizokami ₃ , Yasushi Okuno ₁

Affiliation

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.

中文翻译：

MGeND：日本临床和基因组信息的综合数据库。

为了促进基因组医学的实施，我们开发了一个集成数据库，即日本医学基因组变异数据库（MGeND）。在其第一个版本中，MGeND提供了有关日本个体基因组变异的数据，这些数据是由五个疾病领域的研究小组收集的。这些变异包括经过策划的SNV / INDEL变异和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HLA等位基因的频率。

更新日期：2019-12-06

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