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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

JGAD000094

Type of data
NGS (Exome)
Access criteria
Controlled-access (Type I)
Total data volume
1.2 TB
File formats
  • FASTQ
Research
hum0097
Date published
2020-09-28
Date modified
2020-11-18
DDBJ Search
JGAD000094 (opens in a new tab)
JGA Study
JGAS000094 (opens in a new tab)

Analysis method

WES

Materials and participants
Aplastic anemia with uniparental disomy in 6p
(ICD10: D61.9): 5 cases
  • Health status
    Affected
  • Subject count
    5 (Individual)
Disease
Aplastic anemia with uniparental disomy in 6p (D619)
Sample description
DNAs extracted from oral swab and peripheral blood cells
- Loss of heterozygosity (LOH) fraction
- Wild type (WT) fraction
  • Tissue
    Oral mucosa, Peripheral blood
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
WES
Target
N/A
Reagent kit
SureSelect Human All Exon V5 + UTRs
Fragmentation
Ultrasonic fragmentation (Covaris E220)
Platform
Illumina HiSeq 2500
Read type
Paired-end
Read length
101 bp
Phenotype data
Included
Data use policy
NBDC data sharing policy (JGAP000001)