GA4GH GEM Japan (GEnome Medical alliance Japan)

The Global Alliance for Genomics and Health (GA4GH opens in new window) is an international organization aiming to advance medical care and medicine through responsible sharing of genomic and health-related data.
The GEM Japan (GEnome Medical alliance Japan) has been named a GA4GH Driver Project, pursuing integration of the results of AMED projects to realize genomic medicine in Japan.

Latest News


Introduction for GA4GH mission, which was translated into Japanease, was released on YouTube

GEM Japan releases largest-ever open-access Japanese variant frequency panel

Release of the GEM Japan Whole Genome Aggregation, a variant frequency panel based on large-scale collection and analysis of whole genome sequences from 7,609 Japanese people

AMED-GA4GH GEM Japan workshop 2020 Sendai was held

Michael Baudis, Swiss Personalized Health Network, visited AMED to have an in-person meeting with Japanese Data Scientists

AMED held the GEM Japan Workshop titled Global Career Advancement of Genome and Health Data Scientists

Ewan Birney, GA4GH Chair, visited BioBank Japan (BBJ)

GEM Japan participated in GA4GH Connect Implementation Meeting and National Initiatives Meeting

Around 100 Researchers from Japan and around the world gather to attend the AMED-GA4GH GEM Japan workshop 2019 Sendai

News Release & Research Results

Identification of new gene regions responsible for type 2 diabetes in an East Asian population

Hypertension and obesity were identified as major risk factors for shortening the life spans of today using genomic information collected from 700,000 people - Elucidation of health factors, treatable in all people, using inherent genetic information -

Characterization of mitochondria carrying unique genomes in a Japanese population

Establishment of a genetic risk score model for ischemic stroke: Validation in a prospective cohort in the “Hisayama Study” 

Discovering genetic variations for genomic studies in populations across Asia: Whole-genome sequencing of over 200 population groups in 64 countries

Commencement of the Biobank cross-search System, where 650,000 samples and/or 200,000 data owned by seven Biobank institutes in Japan can be accessed at once

The acquired mechanisms underlying the loss of the Y chromosome ―Phenomena associated with cellular aging and tumorigenesis based on DNA data―

Elucidation of genetic features associated with human height in a Japanese population: An approach to uncovering the mysteries of genetic factors associated with human height in a Japanese population utilizing the analysis of 190,000 individuals

Study develops a method to accurately predict prognosis and treatment response in patients with heart failure ―Elucidates the clinical importance of DNA damage in myocardium in heart failure―

Tohoku Medical Megabank Organization develops Japonica Array® NEO―Makes it possible to apply genome sequencing to a wider range of people―

Significant expansion of data listed in jMorp serving as a public database of genome-omics analysis information with the sample number increased to 15,000 and 4,700 respectively for metabolome analysis data (including longitudinal data) and whole-genome analysis

Study identifies the pathogenic mechanism of porokeratosis ― Reveals that 1 out of 400 Japanese has a congenital predisposition to develop the disease ―

Commencement of add-on cohort program for a study investigating how genetic polymorphism, as well as brain imaging and cognitive function, are associated with olfaction

Past News Release & Research Results

GEM Japan

The GEM Japan project, which has covered Program for an Integrated Database of Clinical and Genomic Information, Platform Program for Promotion of Genome Medicine, BioBank Japan Project for Genomic and Clinical Research, Tohoku Medical Megabank Project in Japan, plans to share the allele frequencies as well as disease variations of Japanese population, and has held GEM Japan workshops in order to localize the GA4GH tools into non-English speaking countries.

  • TogoVar (Integrated database of Japanese genomic variation) : A database that has collected and organized genome sequence differences between individuals (variants), which has been developed as a joint research project of National Bioscience Database Center (NBDC), JST, and Database Center for Life Science (DBCLS), ROIS.
  • MGeND(Medical Genomics Japan Variant Database) : A database aiming to provide the integrated information of genomic variations and clinical characteristics, which has been developed by the AMED program for an Integrated Database of Clinical and Genomic Information.
  • BBJ(BioBank Japan) : One of the three major biobanks in Japan managed by the AMED BioBank Japan Project for Genomic and Clinical Research.It has collected DNA, serum and clinical information from more than 270,000 patients nationwide, and thus is regarded as one of the largest disease biobanks in the world.
  • TMM (Tohoku Medical Megabank Project) : The project conducts a long-term health study of a total of 150,000 residents living in communities which suffered major damage from the Great East Japan Earthquake and reports the findings to the respective residents with their personal information. It also establishes a system of dispatching physicians on a rotation basis to health care providers in the region.

Data sharing

AMED has drawn up Data sharing Policy for the Realization of Genomic Medicine that guides sharing of genomic information. The Policy defines a framework for protecting the rights of research participants and researchers who provided the data and information, while, at the same time, facilitating research in related fields through data sharing.
Data and its sharing database  
Overviews of the data produced by R&D projects, which are in scope of the policy, are here (Japanese only)

Contact Us

Japan Agency for Medical Research and Development (AMED)
GEM Japan Contact Office
E-mail: GEMJ-contact”AT”

※Replace”At”with @.

Last updated 10/28/21