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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)
We apologize for any inconvenience this may cause and appreciate your understanding.

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

JGAD000821

Type of data
NGS (Exome)
Access criteria
Controlled-access (Type I)
Total data volume
15.2 GB
File formats
  • VCF
Research
hum0375
Date published
2025-05-01
Date modified
2025-05-01
DDBJ Search
JGAD000821 (opens in a new tab)
JGA Study
JGAS000688 (opens in a new tab)

Analysis method

WES

Materials and participants
TSC (ICD10: Q851): 163 cases
  • Health status
    Affected
  • Subject count
    163 (Individual)
Disease
TSC (Q851)
Sample description
DNAs extracted from peripheral blood cells
  • Tissue
    Peripheral blood
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
WES
Target
N/A
Reagent kit
SureSelect Human All Exon V5
SureSelect XT Reagent Kit
Fragmentation
Ultrasonic fragmentation (Covaris LE220)
Platform
Illumina HiSeq 2500
Read type
Paired-end
Read length
100 bp
Reference genome
GRCh37
Mapping
BWA
Mapping quality
N/A
QC and filtering
Variants across all genes were classified after excluding synonymous mutations and those with an allele frequency < 1% or an applicant with a genetic mutation not registered in the database (National Center for Biotechnology Information (NCBI), UCSC Genome Browser (UCSC), and Ensembl).
Data use policy
NBDC data sharing policy (JGAP000001)