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 IDType of DataCriteriaRelease Date
JGAS000522 NGS (Exome) Controlled-access (Type I) 2022/06/17

*Release Note  

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

 

MOLECULAR DATA

JGAS000522

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):

NameTitleProject 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

TitleDOIDataset 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 InvestigatorAffiliationCountry/RegionResearch TitleData 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