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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0248-v1Release info

This page is a past version (v1). The latest version is v2.
Latest version (v2)

Research title

Establishment of a Japanese reference genome sequence by high-precision long-read sequencing

Research overview

Aims
To construct a Japanese reference genome sequence
Methods
Sequence data were obtained from each of three healthy Japanese males by the PacBio, Bionano, and Illumina HiSeq platforms. De novo assembly was performed for each individual, and then the three assemblies were integrated by meta-assembly. In addition, the majority variant was adopted by majority vote for the polymorphic sites among the three assemblies. Finally, the meta-scaffolds were anchored by markers from genetic and radiation hybrid maps and integrated as a pseudo-chromosome sequence set.
Participants/materials
three Japanese male individuals
URL

Datasets

The list is the one this version published; each dataset's content is shown as it is now.

This version lists no published datasets.

Data provider

Principal investigator
Masayuki Yamamoto
Affiliation
Tohoku University School of Medicine, Tohoku Medical Megabank Organization

Research projects

NameURL
JRGA (Japanese Reference Genome Assembly)

Grants

NameTitleProject number
Japan Agency for Medical Research and Development (AMED)
Tohoku Medical Megabank Project (Tohoku University) Special account of the Great East Japan Earthquake disaster recovery
  • JP20km0105001
Japan Agency for Medical Research and Development (AMED)
Tohoku Medical Megabank Project (Tohoku University) General accounting
  • JP20km0105002
Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)
Facilitation of R&D Platform for AMED Genome Mecidine Support
  • JP20km0405001
KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
Constructive understanding of multi-scale dynamism of neuropsychiatric disorders
  • JP19H05200
KAKENHI Grant-in-Aid for Scientific Research (C)
NGS analysis of a large genome cohort by deep learning Research Project
  • JP19K06625

Related publications

TitleDOIDataset ID
Construction and Integration of Three De Novo Japanese Human Genome Assemblies toward a Population-Specific Reference
https://doi.org/10.1101/861658 (opens in a new tab)