{"id":"JGAD000607","research":"hum0005","url":"https://humandbs.dbcls.jp/dataset/JGAD000607","datePublished":"2022-01-19","dateModified":"2022-01-19","values":[{"key":"access-criteria","label":{"ja":"アクセス制限","en":"Access criteria"},"type":"vocabulary","terms":[{"code":"controlled-access-type-1","label":{"ja":"制限公開（Type I）","en":"Controlled-access (Type I)"}}]},{"key":"type-of-data","label":{"ja":"データの種類","en":"Type of data"},"type":"text","text":{"ja":"NGS (Target Capture)\n69遺伝子領域・63遺伝子領域","en":"NGS (Target Capture)\n69 genes・63 genes"}}],"experiments":[{"label":"Targeted DNA sequencing","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"非症候群性難聴(ICD10: H90): 1410症例","en":"1410 non-syndromic hearing loss patients (ICD10: H90)"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"H90","label":{"ja":"伝音及び感音難聴","en":"Conductive and sensorineural hearing 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normal"},"type":"vocabulary","terms":[{"code":"normal","label":{"ja":"非腫瘍","en":"Normal"}}]},{"key":"sample-provider","label":{"ja":"試料の入手元","en":"Sample provider"},"type":"text","text":{"ja":null,"en":null}},{"key":"experimental-method","label":{"ja":"実験方法","en":"Experimental method"},"type":"vocabulary","terms":[{"code":"targeted-dna-sequencing","label":{"en":"Targeted DNA sequencing"}}]},{"key":"targets","label":{"ja":"測定対象","en":"Target"},"type":"text","text":{"ja":"69遺伝子領域\n（ACTG1, CABP2, CCDC50, CDH23, CEACAM16, CIB2, CLDN14,\nCOCH, COL11A2, COL4A6, CRYM, DFNA5, DFNB59, DIAPH1,\nESPN, ESRRB, EYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2,\nGRXCR1, HGF, ILDR1, KARS, KCNQ4, LHFPL5, LOXHD1, LRTOMT,\nMARVELD2, MIRN96, MSRB3, MYH14, MYH9, MYO15A, MYO1A,\nMYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, PNPT1, POU3F4,\nPOU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SLC17A8, SLC26A4,\nSLC26A5, SMAC, SMPX, STRC, TECTA, TJP2, TMC1, TMIE,\nTMPRSS3, TPRN, TRIOBP, USH1C, USH2A, WFS1, WHRN）","en":"69 genes\n(ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, COCH,\nCOL11A2, CRYM, DFNA5, DFNB59, DIAPH1, ESPN, ESRRB,\nEYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1,\nHGF, ILDR1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2,\nMIRN96, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A,\nMYO6, MYO7A, OTOA, OTOF, PCDH15, POU3F4, POU4F3,\nPRPS1, PTPRQ, RDX, SERPINB6, SLC17A8, SLC26A4,\nSLC26A5, SMAC, SMPX, STRC, TECTA, TJP2, TMC1, TMIE,\nTMPRSS3, TPRN, TRIOBP, USH1C, USH2A, WFS1, WHRN)"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"ion-ampliseq-custom-panel","label":{"en":"Ion AmpliSeq Custom Panel"}},{"code":"ion-ampliseq-library-kit-2-0","label":{"en":"Ion AmpliSeq Library Kit 2.0"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"type":"text","text":{"ja":null,"en":null}},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"thermo-fisher-scientific-ion-pgm","label":{"en":"Thermo Fisher Scientific Ion PGM"}},{"code":"thermo-fisher-scientific-ion-proton","label":{"en":"Thermo Fisher Scientific Ion Proton"}}]},{"key":"read-type","label":{"ja":"リードタイプ","en":"Read type"},"type":"vocabulary","terms":[{"code":"single-end","label":{"ja":"シングルエンド","en":"Single-end"}}]},{"key":"read-length","label":{"ja":"リード長","en":"Read length"},"type":"number","numbers":[{"value":200,"unit":"bp","high":null}]},{"key":"policies","label":{"ja":"利用ポリシー","en":"Data use policy"},"type":"vocabulary","terms":[{"code":"nbdc-data-sharing-policy-jgap000001","label":{"ja":"NBDC データ共有ポリシー (JGAP000001)","en":"NBDC data sharing policy (JGAP000001)"}}]}]},{"label":"Targeted DNA sequencing","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"非症候群性難聴(ICD10: H90): 1559症例","en":"1559 non-syndromic hearing loss patients (ICD10: H90)"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"H90","label":{"ja":"伝音及び感音難聴","en":"Conductive and sensorineural hearing loss"}}],"name":{"ja":"非症候群性難聴","en":"non-syndromic hearing loss patients"}}]},{"key":"health-status","label":{"ja":"健康状態","en":"Health status"},"type":"vocabulary","terms":[{"code":"affected","label":{"ja":"罹患","en":"Affected"}}]},{"key":"subject-count","label":{"ja":"対象者数","en":"Subject count"},"type":"number","numbers":[{"value":1559,"unit":null,"high":null}]},{"key":"subject-count-type","label":{"ja":"対象者数の数え方","en":"Counted as"},"type":"vocabulary","terms":[{"code":"individual","label":{"ja":"人数","en":"Individual"}}]},{"key":"sample-description","label":{"ja":"試料説明","en":"Sample description"},"type":"text","text":{"ja":"末梢血から抽出したDNA","en":"gDNA extracted from peripheral blood cells"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"peripheral-blood","label":{"ja":"末梢血","en":"Peripheral blood"}}]},{"key":"is-tumor","label":{"ja":"腫瘍 / 非腫瘍","en":"Tumor / normal"},"type":"vocabulary","terms":[{"code":"normal","label":{"ja":"非腫瘍","en":"Normal"}}]},{"key":"sample-provider","label":{"ja":"試料の入手元","en":"Sample provider"},"type":"text","text":{"ja":null,"en":null}},{"key":"experimental-method","label":{"ja":"実験方法","en":"Experimental method"},"type":"vocabulary","terms":[{"code":"targeted-dna-sequencing","label":{"en":"Targeted DNA sequencing"}}]},{"key":"targets","label":{"ja":"測定対象","en":"Target"},"type":"text","text":{"ja":"63遺伝子領域\n（ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, COCH,\nCOL11A2, CRYM, DFNA5, DFNB59, DIAPH1, ESPN, ESRRB,\nEYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1,\nHGF, ILDR1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2,\nMIRN96, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A,\nMYO6, MYO7A, OTOA, OTOF, PCDH15, POU3F4, POU4F3,\nPRPS1, PTPRQ, RDX, SERPINB6, SLC17A8, SLC26A4,\nSLC26A5, SMAC, SMPX, STRC, TECTA, TJP2, TMC1, TMIE,\nTMPRSS3, TPRN, TRIOBP, USH1C, USH2A, WFS1, WHRN）","en":"63 genes\n(ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, COCH,\nCOL11A2, CRYM, DFNA5, DFNB59, DIAPH1, ESPN, ESRRB,\nEYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1,\nHGF, ILDR1, KCNQ4, LHFPL5, LOXHD1, LRTOMT,\nMARVELD2, MIRN96, MSRB3, MYH14, MYH9, MYO15A,\nMYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15,\nPOU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6,\nSLC17A8, SLC26A4, SLC26A5, SMAC, SMPX, STRC,\nTECTA, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP,\nUSH1C, USH2A, WFS1, WHRN)"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"ion-ampliseq-custom-panel","label":{"en":"Ion AmpliSeq Custom Panel"}},{"code":"ion-ampliseq-library-kit-2-0","label":{"en":"Ion AmpliSeq Library Kit 2.0"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"type":"text","text":{"ja":null,"en":null}},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"thermo-fisher-scientific-ion-pgm","label":{"en":"Thermo Fisher Scientific Ion PGM"}},{"code":"thermo-fisher-scientific-ion-proton","label":{"en":"Thermo Fisher Scientific Ion Proton"}},{"code":"thermo-fisher-scientific-ion-s5","label":{"en":"Thermo Fisher Scientific Ion S5"}}]},{"key":"read-type","label":{"ja":"リードタイプ","en":"Read type"},"type":"vocabulary","terms":[{"code":"single-end","label":{"ja":"シングルエンド","en":"Single-end"}}]},{"key":"read-length","label":{"ja":"リード長","en":"Read length"},"type":"number","numbers":[{"value":200,"unit":"bp","high":null}]},{"key":"policies","label":{"ja":"利用ポリシー","en":"Data use policy"},"type":"vocabulary","terms":[{"code":"nbdc-data-sharing-policy-jgap000001","label":{"ja":"NBDC データ共有ポリシー (JGAP000001)","en":"NBDC data sharing policy (JGAP000001)"}}]}]}],"dataVolume":1074460524673,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}}]}