HGVD (Human Genetic Variation Database)

Structure a database of causative gene mutations based on the results of research projects for practical application of treatment in conditions such as intractable diseases and cancer.

The availability of whole genome sequencing for the analysis of human diseases is expected to accelerate the accumulation of information on the causative genetic mutations of rare and intractable diseases, and a system for sharing disease gene information is essential for conducting efficient research, producing results of high medical value, and providing appropriate diagnostic treatment for patients. Sharing disease gene information is indispensable for efficient analysis, generating effects of high medical value, and appropriately diagnosing and treating patients. Therefore, this project aims to establish a database for collecting and sharing information on genetic mutations associated with diseases through the collaboration of research centers for rare and intractable diseases.

https://www.hgvd.genome.med.kyoto-u.ac.jp/

Higasa K, et al. Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet. 2016 Jun; 61(6): 547–553.