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NBDC Human Database

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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)
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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

JGAD000141

Type of data
NGS (Exome)
Access criteria
Controlled-access (Type I)
Total data volume
79.1 MB
File formats
  • VCF
Research
hum0127
Date published
2020-09-28
Date modified
2021-04-19

Analysis method

WES

Materials and participants
91 cancer patients with hypermutator tumors harborig POLE mutations
(ICD10: C00-D48)
  • Health status
    Affected
  • Subject count
    91 (Individual)
Sample description
DNAs extracted from peripheral blood cells (non-tumor tissues) and surgically dissected tumor tissues
  • Tissue
    Peripheral blood
  • Tumor / normal
    Mixed
Sample provider
N/A
Experimental method
WES
Target
N/A
Reagent kit
Ion AmpliSeq Exome RDY Kit
Fragmentation
N/A
Platform
Thermo Fisher Scientific Ion Proton
Read type
Single-end
Read length
180 bp
Reference genome
GRCh37
Mapping
Torrent Suite
QC and filtering
Torrent Suite
Analysis method
Torrent Suite plugin Variant Caller
Phenotype data
Included