TogoVar: A comprehensive Japanese genetic variation database

TogoVar (A comprehensive Japanese genetic variation database) is a database that has collected and organized genome sequence differences between individuals (variants) in the Japanese population and disease information associated with them. TogoVar provides variant frequencies in the Japanese population that have been aggregated across research projects. Two available datasets, JGA-NGS and JGA-SNP, are obtained by aggregating individual genomic data that have been registered in the NBDC Human Database / Japanese Genotype-phenotype Archive (JGA). In addition, TogoVar integrates information related to genotypes or phenotypes that has been compiled independently in a variety of different databases and provides information for interpreting variants in a one-stop, easy-to-understand manner. TogoVar is developed and operated by Database Center for Life Science (DBCLS), Joint Support-Center for Data Science Research, Research Organization of Information and Systems (ROIS), and supported by Life Science Database Integration Project of Japan Science and Technology Agency.

TogoVar（综合型日本遗传变异数据库，Comprehensive Japanese Genetic Variation Database）是一个收集并整理了日本人群个体间基因组序列差异（即遗传变异，variants）及其关联疾病信息的专业数据库。该数据库提供跨研究项目汇总得到的日本人群遗传变异频率数据。目前公开的两类数据集JGA-NGS与JGA-SNP，均整合了日本生物数据中心（National Bioscience Database Center, NBDC）人类数据库/日本基因型-表型存档（JGA, Japanese Genotype-phenotype Archive）中注册的个体基因组数据。此外，TogoVar还整合了来自多种独立数据库的基因型与表型相关信息，能够以一站式、易于理解的方式为遗传变异解读提供相关数据支持。该数据库由生命科学数据库中心（Database Center for Life Science, DBCLS）、联合数据科学研究支援中心（Joint Support-Center for Data Science Research）以及信息系统研究组织（Research Organization of Information and Systems, ROIS）联合开发运营，并得到了日本科学技术振兴机构生命科学数据库整合项目的资助。

搜集汇总

背景与挑战

背景概述

TogoVar是一个综合性日本人群遗传变异数据库，整合了来自日本基因型-表型存档（JGA）等多个来源的基因组变异数据及其关联疾病信息。该数据库提供日本人群的变异频率统计，并以一站式方式整合多源信息，便于用户解读变异。