NBDC Research ID: hum0329.v1
SUMMARY
Aims: To perform a comprehensive genetic analysis using next-generation sequence technology to make genetic diagnoses of "undiagnosed diseases".
Methods: Whole exome sequencing analysis
Participants/Materials: Patients with undiagnosed diseases and their parents
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000522 | NGS (Exome) | Controlled-access (Type I) | 2022/06/17 |
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MOLECULAR DATA
| Participants/Materials |
Patients with undiagnosed diseases and their parents (ICD10: different upon cases) 177 families: 522 participants |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2500] |
| Library Source | DNAs extracted from peripheral blood cells or oral mucosa |
| Cell Lines | - |
| Library Construction (kit name) | SureSelect Human All Exon V6 kit |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 101 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000641 |
| Total Data Volume | 2.3 TB (fastq) |
| Comments (Policies) | Familial policy |
DATA PROVIDER
Principal Investigator: Hideki Muramatsu
Affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED) | Nationwide cross-sectional case collection, banking, and comprehensive analysis of undiagnosed genetic disorders | JP16ek0109166 |
| Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED) | Research on the development of diagnostic programs for undiagnosed diseases | JP17ek0109151 |
| Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED) | Initiative on Rare and Undiagnosed Diseases(IRUD): Research on the development of diagnostic programs for rare undiagnosed diseases | JP20ek0109301 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Whole-exome analysis of 177 pediatric patients with undiagnosed diseases | doi: 10.1038/s41598-022-14161-6 | JGAD000641 |
USRES (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
| Kunihiro Nishimura | Xcoo, Inc. Research | Japan | Development of an automated whole exome analysis diagnostic algorithm for intractable and rare diseases using public databases | JGAD000641 | 2023/09/08-2027/07/31 |
| Satoshi Yuhara | Bioinformatics section, SRL inc. | Japan | Validation of Rare Disease Clinical Reporting System | JGAD000641 | 2024/07/01-2027/03/31 |
| Satoshi Fujii | Department of Molecular Pathology, Yokohama City University Graduate School of Medicine | Japan | A observational study to control the accuracy of PD-L1 immunohistochemistry and to elucidate the biological significance of the staining affinity in squamous cell carcinoma across multiple organs | JGAD000641 | 2025/10/07-2026/07/22 |
