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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

JGAD000007

Type of data
NGS (Exome)
Access criteria
Controlled-access (Type I)
Total data volume
113 GB
File formats
  • TXT
Research
hum0008
Date published
2020-09-28
Date modified
2020-09-28
DDBJ Search
JGAD000007 (opens in a new tab)
JGA Study
JGAS000007 (opens in a new tab)

Analysis method

WES

Materials and participants
Patients with Hirschsprung's diseases (5 cases) and their families (6 cases)
(Total 4 sets about 11 cases)
  • Health status
    Mixed
  • Subject count
    11 (Individual)
Sample description
DNA 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 50Mb
Fragmentation
Ultrasonic fragmentation (Covaris)
Platform
Illumina HiSeq 2000
Read type
Paired-end
Read length
100 bp
Phenotype data
Included
Data use policy
NBDC data sharing policy (JGAP000001)