{"id":"JGAD000272","research":"hum0194","url":"https://humandbs.dbcls.jp/dataset/JGAD000272","datePublished":"2020-09-28","dateModified":"2025-10-27","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）","en":"NGS (Target Capture)"}}],"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":"肺がん（ICD10：C34）：2症例","en":"Lung adenocarcinoma (ICD10: C34): 2 cases"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"C34","label":{"ja":"気管支及び肺の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of bronchus and lung"}}],"name":{"ja":"肺がん","en":"Lung adenocarcinoma"}}]},{"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":2,"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":"腫瘍組織から抽出したDNA","en":"DNAs extracted from tumor tissues"}},{"key":"is-tumor","label":{"ja":"腫瘍 / 非腫瘍","en":"Tumor / normal"},"type":"vocabulary","terms":[{"code":"tumor","label":{"ja":"腫瘍","en":"Tumor"}}]},{"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":"ABL1, AKT1, AKT3, ALK, APC, ATM, AXL, BCL2L11,\nBRAF, BRCA1, BRCA2, CCND1, CDH1, CD274, CDKN2A,\nCFTR, CREBBP, CSF1R, CTNNA3, CTNNB1, CUL3, DCC,\nEGFR, EPHA2, EPHA7, ERBB2, ERBB3, ERBB4, FBXW7,\nFGFR1, FGFR2, FGFR3, FGFR4, FLT3, FOXA1, FOXP1,\nGNA11, GNAQ, GNAS, GRM3, HGF, HNF1A, HRAS,\nIDH1, IDH2, IGF1R, JAK2, JAK3, KDR, KEAP1, KIT,\nKLF4, KRAS, MAP2K1, MAP2K2, MC1R, MCL1, MED12,\nMERTK, MET, MITF, MLH1, MLL2, MLL3, MPL, MSH2,\nMSH6, MTOR, MYC, MYCN, NF1, NF2, NFE2L2, NOTCH1,\nNOTCH2, NPM1, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA,\nPIK3C2B, PIK3CA, PIK3CG, PMS2, PTCH1, PTEN, PTPN11,\nRAC1, RAC2, RB1, RET, ROCK2, ROS1, SH2B3, SLIT2,\nSMAD4, SMARCA4, SMARCB1, SMO, SOX2, SPOP,\nSRC, STK11, TP53, TRAF7, TSC1, TSC2, VHL","en":"ABL1, AKT1, AKT3, ALK, APC, ATM, AXL, BCL2L11,\nBRAF, BRCA1, BRCA2, CCND1, CDH1, CD274, CDKN2A,\nCFTR, CREBBP, CSF1R, CTNNA3, CTNNB1, CUL3, DCC,\nEGFR, EPHA2, EPHA7, ERBB2, ERBB3, ERBB4, FBXW7,\nFGFR1, FGFR2, FGFR3, FGFR4, FLT3, FOXA1, FOXP1,\nGNA11, GNAQ, GNAS, GRM3, HGF, HNF1A, HRAS,\nIDH1, IDH2, IGF1R, JAK2, JAK3, KDR, KEAP1, KIT,\nKLF4, KRAS, MAP2K1, MAP2K2, MC1R, MCL1, MED12,\nMERTK, MET, MITF, MLH1, MLL2, MLL3, MPL, MSH2,\nMSH6, MTOR, MYC, MYCN, NF1, NF2, NFE2L2, NOTCH1,\nNOTCH2, NPM1, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA,\nPIK3C2B, PIK3CA, PIK3CG, PMS2, PTCH1, PTEN, PTPN11,\nRAC1, RAC2, RB1, RET, ROCK2, ROS1, SH2B3, SLIT2,\nSMAD4, SMARCA4, SMARCB1, SMO, SOX2, SPOP,\nSRC, STK11, TP53, TRAF7, TSC1, TSC2, VHL"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"haloplex-hs-custom-kit","label":{"en":"HaloPlex HS Custom Kit"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"type":"text","text":{"ja":"酵素反応（キット付属のカクテル）","en":"Enzymatic fragmentation (included in the above library construction kit)"}},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-miseq","label":{"en":"Illumina MiSeq"}}]},{"key":"read-type","label":{"ja":"リードタイプ","en":"Read type"},"type":"vocabulary","terms":[{"code":"paired-end","label":{"ja":"ペアエンド","en":"Paired-end"}}]},{"key":"read-length","label":{"ja":"リード長","en":"Read length"},"type":"number","numbers":[{"value":150,"unit":"bp","high":null}]},{"key":"reference-sequence","label":{"ja":"参照ゲノム","en":"Reference genome"},"type":"vocabulary","terms":[{"code":"grch38","label":{"en":"GRCh38"}}]},{"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":252383173,"fileFormats":[{"code":"bam","label":{"en":"BAM"}},{"code":"vcf","label":{"en":"VCF"}}]}