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 |
*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more
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 |