August 25th 2020
GEnome Medical alliance Japan (GEM Japan), a Driver Project of the Global Alliance for Genomics and Health (GA4GH), has released GEM Japan Whole Genome Aggregation (GEM-J WGA) — a first-of-its-kind open-access variant frequency panel of 7,609 Japanese whole genome sequences. Researchers at GEM Japan detected >76M autosomal single nucleotide variations（SNV) and >10M autosomal insertion and deletion (INDEL) sequences in the dataset. They detected another >2M SNVs and >400K INDELs on the X chromosome.
The Japan Agency for Medical Research and Development (AMED) established GEM Japan in 2018 to facilitate genomic and health data sharing among research and medical laboratory communities, both domestically and internationally. GEM Japan aggregates genotypic and associated phenotypic information from various Japanese disease-specific and population genetic studies into publicly available resources based on a standardized format.
“GEM-J WGA has been much encouraged by GA4GH to share Japanese allele frequency data, including rare variants of 0.01%, as a global reference to the Asian ethnic specificity,” said Hidewaki Nakagawa, M.D., Ph.D., Program Officer at AMED and the GEM Japan Driver Project Champion at GA4GH. “Our participation in GA4GH has motivated us to pursue this work through its focus on the value of ethnically diverse genomic data.”
“In the GA4GH community, GEM Japan has become well recognized as the global leader in sharing Asian-specific data to facilitate the interpretation of human diseases and improve medical practice — not only in Japan but also around the world,” said Ewan Birney, Ph.D., Director of EMBL’s European Bioinformatics Institute and Chair of the GA4GH Steering Committee. “This selfless gift from Japan to the world will ensure that people of Japanese descent around the globe will benefit from genomic research.”
AMED is an IRDiRC member organization and it is part of the Funders Constituent Committee focused on “facilitating high-level coordination of funding initiatives to maximize the impact of rare diseases research projects by aligning strategies, avoiding unnecessary duplication, and identifying research funding gaps”.
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