Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
Schedule: October 5th (Mon), 2026, 9:00 - October 7th (Wed), 2026, 15:00 (JST)
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We are currently receiving a large number of applications for data submission, and the review process is taking longer than usual.We sincerely apologize for the delay and kindly ask for your understanding. When submitting an application, we would greatly appreciate it if you could allow sufficient time for the processing.

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.

Dataset ID

JGAD000641

Type of data: NGS (Exome)
Access criteria: Controlled-access (Type I)
Total data volume: 2.3 TB
File formats: FASTQ
Research: hum0329
Date published: 2022-04-20
Date modified: 2022-04-20
DDBJ Search: JGAD000641 (opens in a new tab)
JGA Study: JGAS000522 (opens in a new tab)

Analysis method

WES

Materials and participants: Patients with undiagnosed diseases and their parents (ICD10: different upon cases)
177 families: 522 participants; Health status
Mixed
Subject count
522 (Individual)
Disease: Patients with undiagnosed diseases and their parents
Sample description: DNAs extracted from peripheral blood cells or oral mucosa; Tissue
Oral mucosa, Peripheral blood
Tumor / normal
Normal
Sample provider: N/A
Experimental method: WES
Target: N/A
Reagent kit: SureSelect Human All Exon V6
Fragmentation: Ultrasonic fragmentation (Covaris)
Platform: Illumina HiSeq 2500
Read type: Paired-end
Read length: 101 bp
Data use policy: Familial Policy (JGAP000006)