Research ID
hum0248-v2Release info
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
Datasets
| Cart | Dataset ID | Type of data | Analysis method | Access criteria | Date published |
|---|---|---|---|---|---|
| JGAD000362 | Japanese reference genome sequence |
| Controlled-access (Type II) | 2020-11-04 |
Data provider
- Principal investigator
- Masayuki Yamamoto
- Affiliation
- Tohoku University School of Medicine, Tohoku Medical Megabank Organization
Research projects
| Name | URL |
|---|---|
JRGA (Japanese Reference Genome Assembly) |
Grants
| Name | Title | Project 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 |
|
Japan Agency for Medical Research and Development (AMED) | Tohoku Medical Megabank Project (Tohoku University) General accounting |
|
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 |
|
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 |
|
KAKENHI Grant-in-Aid for Scientific Research (C) | NGS analysis of a large genome cohort by deep learning Research Project |
|
Related publications
| Title | DOI | Dataset ID |
|---|---|---|
Construction and Integration of Three De Novo Japanese Human Genome Assemblies toward a Population-Specific Reference |
Controlled access users
No use of the controlled access data has been recorded.