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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

DRA017996

Type of data
NGS (Target Capture)
Access criteria
Unrestricted-access
Total data volume
2.7 GB
File formats
  • FASTQ
Research
hum0439
Date published
2024-03-01
Date modified
2024-02-20

Analysis method

Targeted DNA sequencing

Materials and participants
FH (ICD10: E780): 5 cases
1 Control
  • Health status
    Mixed
  • Subject count
    6 (Individual)
Disease
FH (E780)
Sample description
DNAs extracted from peripheral blood cells
  • Tissue
    Peripheral blood
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
Targeted DNA sequencing
Target
LDLR (Low-Density Lipoprotein Receptor): Chr19: 11089463-11133820
PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9): Chr1: 55039548-55064852
* LDLR and PCSK9 genes were selectively excised from the entire genome using CRISPR-Cas9, followed by ligating sequencing adapters for targeted sequencing. The background DNA remains unremoved, which results in a small amount of reads from random regions.
Reagent kit
Cas9 Sequencing Kit
Fragmentation
N/A
Platform
Oxford Nanopore Technologies MinION
Read type
Single-end
Read length
Read length at the LDLR locus: 46.2 kbp (Maximum)
Read length at the PCSK9 locus: 26.5 kbp (Maximum)