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Dataset ID

JGAD000705

Type of data
NGS (Amplicon-seq)
Access criteria
Controlled-access (Type I)
Total data volume
169 MB
File formats
  • VCF
Research
hum0377
Date published
2022-11-28
Date modified
2022-11-28

Analysis method

RNA Amplicon-seq

Materials and participants
LQTS (ICD10: I45.81) : 556 cases
  • Health status
    Affected
  • Subject count
    556 (Individual)
Disease
LQTS (I458)
Sample description
DNAs extracted from peripheral blood cells
  • Tissue
    Peripheral blood
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
Amplicon-seq
Target
LQTS causative 15 genes and LQTS related 85 genes*1
Reagent kit
Ion AmpliSeq Library Kit for Chef DL8
Fragmentation
N/A
Platform
Thermo Fisher Scientific Ion Proton
Read type
Paired-end
Read length
119 bp (Mean)
Reference genome
GRCh37
Mapping
Ion Torrent Variant Caller
Mapping quality
Mapped reads: 2,485,134
On target region: 98.21%
Analysis method
Ion Torrent Variant Caller
Coverage (depth)
473.5x