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Dataset ID

JGAD000275

Type of data
NGS (Target Capture)
69 genes・63 genes・90 genes
Access criteria
Controlled-access (Type I)
Total data volume
13.9 GB
File formats
  • FASTQ
Research
hum0005
Date published
2020-09-28
Date modified
2020-11-18
DDBJ Search
JGAD000275 (opens in a new tab)
JGA Study
JGAS000192 (opens in a new tab)

Unrestricted-access files linked to this dataset

Download the URL list
FileLabelSizeCopy URL
cge12677-sup-0001-appendixs.pdf90 genes55.5 KB

Analysis method

Targeted DNA sequencing

Materials and participants
2 non-syndromic hearing loss patients (ICD10: H90)
  • Health status
    Affected
  • Subject count
    2 (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
90 genes
(ACTG1, AIFM1, ALMS1, ATP2B2, CABP2, CACNA1D, CATSPER2,
CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLRN1, COCH,
COL11A2, CRYL1, CRYM, DFNA5, DIABLO, DIAPH1, DSPP, ESPN,
ESSRB, EYA1, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPR98,
GPSM2, GRHL2, GRXCR1, HGF, ILDR1, KCNJ10, KCNQ1, KCNQ4,
LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYH14, MYH9,
MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, OTOG,
OTOGL, P2RX2, PCDH15, PDZD7, PJVK, PNPT1, POU3F4,
POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8,
SLC26A4, SLC26A5, SMPX, STRC, TECTA, TJP2, TMC1, TMIE,
TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A,
WFS1, WHRN, MIR96, MIR182, MIR183, MTRNR1, MTTS1)
Reagent kit
SureSelect XT Reagent Kit
Fragmentation
N/A
Platform
Illumina HiSeq 2000
Read type
Paired-end
Read length
100 bp
Data use policy
NBDC data sharing policy (JGAP000001)

Targeted DNA sequencing

Materials and participants
9 non-syndromic hearing loss patients (a data from the same patient is included in JGAS000032) (ICD10: H90)
  • Health status
    Affected
  • Subject count
    9 (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
Data use policy
NBDC data sharing policy (JGAP000001)

Targeted DNA sequencing

Materials and participants
17 non-syndromic hearing loss patients (ICD10: H90)
  • Health status
    Affected
  • Subject count
    17 (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
Data use policy
NBDC data sharing policy (JGAP000001)