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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

JGAD000419

Type of data
NGS (Target Capture)
Access criteria
Controlled-access (Type I)
Total data volume
1.4 GB
File formats
  • FASTQ
  • BAM
Research
hum0276
Date published
2021-10-01
Date modified
2022-11-16
DDBJ Search
JGAD000419 (opens in a new tab)
JGA Study
JGAS000308 (opens in a new tab)

Analysis method

Targeted DNA sequencing

Materials and participants
Gorlin syndrome (ICD10: Q859): 12 cases
(7 cyst samples, 12 gingival samples, and 5 blood samples)
3 blood relatives
(3 blood samples)
  • Health status
    Mixed
  • Subject count
    15 (Individual)
Disease
Gorlin syndrome (Q859)
Sample description
gDNA extracted from cysts, gingival, and blood samples
  • Tissue
    Cyst, Gingiva, Peripheral blood
  • Tumor / normal
    Mixed
Sample provider
N/A
Experimental method
Targeted DNA sequencing
Target
PTCH1, PTCH2, SMO, SUFU
Reagent kit
AmpliSeq Library Plus for Illumina
Fragmentation
N/A
Platform
Illumina MiSeq
Read type
Paired-end
Read length
375 bp
Reference genome
GRCh37
Data use policy
NBDC data sharing policy (JGAP000001)