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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)
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

JGAD000611

Type of data
NGS (WGS, Exome)
Access criteria
Controlled-access (Type I)
Total data volume
4.7 TB
File formats
  • FASTQ
Research
hum0018
Date published
2025-07-22
Date modified
2025-07-22

Analysis method

WES

Materials and participants
Spastic paraplegia (ICD10: G82.1): 464 cases 469 samples
  • Health status
    Affected
  • Subject count
    464 (Individual)
Disease
Spastic paraplegia (G821)
Sample description
gDNA 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
SureSelect Human All Exon V4
SureSelect Human All Exon V5
SureSelect Human All Exon V6
SureSelect Human All Exon V7
Fragmentation
Ultrasonic fragmentation (Covaris S220)
Platform
Illumina HiSeq 2000
Illumina HiSeq 2500
Read type
Paired-end
Read length
100 bp

WGS

Materials and participants
Spastic paraplegia (ICD10: G82.1): 2 cases 2 samples (blood)
  • Health status
    Affected
  • Subject count
    2 (Individual)
Disease
Spastic paraplegia (G821)
Sample description
gDNA extracted from peripheral blood cells
  • Tissue
    Peripheral blood
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
WGS
Target
N/A
Reagent kit
TruSeq DNA PCR-Free Library Prep Kit
Fragmentation
Ultrasonic fragmentation (Covaris S220)
Platform
Illumina HiSeq 2500
Read type
Paired-end
Read length
150 bp