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NBDC Human Database

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Dataset ID

JGAD000436

Type of data
NGS (Target Capture)
Access criteria
Controlled-access (Type I)
Total data volume
194 GB
File formats
  • FASTQ
Research
hum0006
Date published
2022-08-09
Date modified
2022-08-09

Unrestricted-access files linked to this dataset

FileLabelSizeCopy URL
6110_TargetGenes.xlsx6110 target genes80.3 KB

Analysis method

Targeted DNA sequencing

Materials and participants
cerebral cavernous malformation (ICD10: D180): 12 cases
vertebral hemangioma (ICD10: D180): 1 cases
orbital cavernous malformation (ICD10: D180): 3 cases
vascular malformation samples, respective paired peripheral blood samples (total 32 samples)
  • Health status
    Affected
Disease
cerebral cavernous malformation (D180)
vertebral hemangioma (D180)
orbital cavernous malformation (D180)
Sample description
DNAs extracted from vascular malformation samples and respective paired peripheral blood samples
Sample provider
N/A
Experimental method
Targeted DNA sequencing
Reagent kit
SureSelect Focused Exome
Fragmentation
Ultrasonic fragmentation (Covaris E220)
Platform
Illumina HiSeq 2500
Read type
Paired-end
Read length
100 bp