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Dataset ID

JGAD000607

Type of data
NGS (Target Capture)
69 genes・63 genes
Access criteria
Controlled-access (Type I)
Total data volume
1.1 TB
File formats
  • FASTQ
Research
hum0005
Date published
2022-01-19
Date modified
2022-01-19

Analysis method

Targeted DNA sequencing

Materials and participants
1410 non-syndromic hearing loss patients (ICD10: H90)
  • Health status
    Affected
  • Subject count
    1410 (Individual)
Disease
non-syndromic hearing loss patients (H90)
Sample description
gDNA extracted from peripheral blood cells
  • Tissue
    Peripheral blood
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
Targeted DNA sequencing
Target
69 genes
(ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, COCH,
COL11A2, CRYM, DFNA5, DFNB59, DIAPH1, ESPN, ESRRB,
EYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1,
HGF, ILDR1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2,
MIRN96, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A,
MYO6, MYO7A, OTOA, OTOF, PCDH15, POU3F4, POU4F3,
PRPS1, PTPRQ, RDX, SERPINB6, SLC17A8, SLC26A4,
SLC26A5, SMAC, SMPX, STRC, TECTA, TJP2, TMC1, TMIE,
TMPRSS3, TPRN, TRIOBP, USH1C, USH2A, WFS1, WHRN)
Reagent kit
Ion AmpliSeq Custom Panel
Ion AmpliSeq Library Kit 2.0
Fragmentation
N/A
Platform
Thermo Fisher Scientific Ion PGM
Thermo Fisher Scientific Ion Proton
Read type
Single-end
Read length
200 bp

Targeted DNA sequencing

Materials and participants
1559 non-syndromic hearing loss patients (ICD10: H90)
  • Health status
    Affected
  • Subject count
    1559 (Individual)
Disease
non-syndromic hearing loss patients (H90)
Sample description
gDNA extracted from peripheral blood cells
  • Tissue
    Peripheral blood
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
Targeted DNA sequencing
Target
63 genes
(ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, COCH,
COL11A2, CRYM, DFNA5, DFNB59, DIAPH1, ESPN, ESRRB,
EYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1,
HGF, ILDR1, KCNQ4, LHFPL5, LOXHD1, LRTOMT,
MARVELD2, MIRN96, MSRB3, MYH14, MYH9, MYO15A,
MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15,
POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6,
SLC17A8, SLC26A4, SLC26A5, SMAC, SMPX, STRC,
TECTA, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP,
USH1C, USH2A, WFS1, WHRN)
Reagent kit
Ion AmpliSeq Custom Panel
Ion AmpliSeq Library Kit 2.0
Fragmentation
N/A
Platform
Thermo Fisher Scientific Ion PGM
Thermo Fisher Scientific Ion Proton
Thermo Fisher Scientific Ion S5
Read type
Single-end
Read length
200 bp