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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

JGAD000748

Type of data
NGS (Exome)
NGS (RNA-seq)
NGS (Target Capture)
Access criteria
Controlled-access (Type I)
Total data volume
454 GB
File formats
  • FASTQ
  • BAM
Research
hum0409
Date published
2023-06-27
Date modified
2023-06-27
DDBJ Search
JGAD000748 (opens in a new tab)
JGA Study
JGAS000619 (opens in a new tab)

Analysis method

WES

Materials and participants
intimal sarcoma with MDM2 amplification (ICD-O-3: 9137/3): 11 cases
FFPE tumor tissue: 13 samples
control normal blood cell: 11 samples
  • Health status
    Mixed
  • Subject count
    24 (Mixed)
Sample description
DNAs extracted from FFPE tumor tissues and normal blood cells of patients
  • Tissue
    Peripheral blood
  • Tumor / normal
    Mixed
Sample provider
N/A
Experimental method
WES
Target
N/A
Reagent kit
KAPA Hyper Prep Kit
SureSelect Human All Exon V7
SureSelect XT Reagent Kit
Fragmentation
Ultrasonic fragmentation (Covaris)
Platform
Illumina NextSeq 500
Read type
Paired-end
Read length
75 bp
Data use policy
Cancer research only (JGAP000008)
NBDC data sharing policy (JGAP000001)

RNA-seq

Materials and participants
intimal sarcoma with MDM2 amplification (ICD-O-3: 9137/3): 10 cases
FFPE tumor tissue: 12 samples
  • Health status
    Affected
  • Subject count
    12 (Sample)
Sample description
RNAs extracted from FFPE tumor tissues
  • Tumor / normal
    Tumor
Sample provider
N/A
Experimental method
RNA-seq
Target
N/A
Reagent kit
SureSelect Human All Exon V7
SureSelect XT HS2 RNA Reagent Kit
Fragmentation
N/A
Platform
Illumina NextSeq 500
Read type
Paired-end
Read length
145 bp
Data use policy
Cancer research only (JGAP000008)
NBDC data sharing policy (JGAP000001)

Targeted DNA sequencing

Materials and participants
intimal sarcoma with MDM2 amplification (ICD-O-3: 9137/3): 10 cases
cell-free DNA (cfDNA) in blood: 26 samples
control normal blood cell: 10 samples
  • Health status
    Mixed
  • Subject count
    36 (Mixed)
Sample description
cfDNA in blood and DNAs extracted from normal blood cells of patients
  • Tissue
    cfDNA, Peripheral blood
  • Tumor / normal
    Mixed
Sample provider
N/A
Experimental method
Targeted DNA sequencing
Target
737 genes
Reagent kit
Twist Library Preparation EF Kit
Fragmentation
Enzymatic fragmentation
Platform
Illumina NovaSeq 6000
Read type
Paired-end
Read length
150 bp
Reference genome
GRCh38
Mapping
BWA
Mapping quality
0≦
Coverage (depth)
438–2221x
Data use policy
Cancer research only (JGAP000008)
NBDC data sharing policy (JGAP000001)