Summary

• The Tohoku Medical Megabank (TMM) Project, RIKEN and the Institute of Medical Science, the University of Tokyo (Biobank Japan, BBJ) integrated and re-analyzed various collected data to create a panel reflecting various regions of Japan.
• This variant frequency panel makes use of the largest whole genome sequence data set achieved to date for the Japanese population.
• Release of basic data that can be reused in Personalized Medicine approaches to tackle rare diseases and monogenic conditions.
• Publication of a referenceable variant frequency panel for Japanese people is expected to contribute to elucidation of the etiology of unknown or Japanese-specific undiagnosed rare and monogenic diseases.

Outline

Collaborating teams of researchers from Tohoku Medical Megabank Organization (ToMMo) at Tohoku University, Iwate Tohoku Medical Megabank Organization (IMM) at Iwate Medical University, RIKEN, and the Institute of Medical Science, the University of Tokyo (BBJ) carried out the variant detection on Whole Genome Sequence (WGS) Data, which was collected by ToMMo/IMM and BBJ (4,495 and 3,114 sequences respectively, total 7,609). Those analyses have published as the GEM Japan Whole Genome Aggregation (GEM-J WGA) panel, including variant frequencies for 7,609 people as unrestricted-access data, through TogoVar, a database developed by the National Bioscience Database Center (NBDC), the Japan Science and Technology Agency (JST). The results of individual genome sequences mapped to reference genome sequences will also be published soon as controlled-access/group-sharing data, through the Japanese Genotype-phenotype Archive (JGA) / AMED Genome group sharing Database (AGD) of the Bioinformation and DDBJ Center at the National Institute of Genetics.

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Related Link

TogoVar

GEM Japan (GEnome Medical alliance Japan)

Iwate Medical University Iwate Tohoku Medical Megabank Organization (IMM)

Biobank Japan (BBJ)

National Bioscience Database Center (NBDC)