Abstract
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.
Highlights
To promote the implementation of genomic medicine, we developed an integrated database, the Medical Genomics Japan Variant Database (MGeND)
There is no database of clinical and genomic information that reflects the characteristics of Asian populations across multiple disease fields, including monogenic and polygenic diseases
The Medical Genomics Japan Variant Database, “MGeND”, which integrates clinical and genomic information regarding Japanese individuals
Summary
To promote the implementation of genomic medicine, we developed an integrated database, the Medical Genomics Japan Variant Database (MGeND). ClinVar, developed by the National Institutes of Health in the US, provides genomic variant information with supporting evidence and review status[1] and is widely utilized for the clinical interpretation of variants. Some databases provide variant information regarding specific diseases.
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