{"id":"JGAD000315","research":"hum0222","url":"https://humandbs.dbcls.jp/dataset/JGAD000315","datePublished":"2020-09-28","dateModified":"2020-11-18","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":"乳がん（ICD10：C50）：115症例（124検体）\n原発巣腫瘍組織と末梢血ペア：108症例（116検体）\n原発巣腫瘍組織のみ：7症例（8検体）","en":"breast cancer (ICD10: C50): 115 cases (124 samples)\nprimary tumor tissues and paired blood: 108 cases (116 samples)\nprimary tumor tissues only: 7 cases (8 samples)"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"C50","label":{"ja":"乳房の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of breast"}}],"name":{"ja":"乳がん","en":"breast cancer"}}]},{"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":124,"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":"sample","label":{"ja":"検体数","en":"Sample"}}]},{"key":"sample-description","label":{"ja":"試料説明","en":"Sample description"},"type":"text","text":{"ja":"腫瘍組織及び末梢血から抽出したDNA","en":"DNAs extracted from primary tumor tissues and peripheral blood cells"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"breast","label":{"ja":"乳房","en":"Breast"}},{"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":"mixed","label":{"ja":"混在","en":"Mixed"}}]},{"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":"家族性乳がんの既知原因遺伝子（BRCA1, BRCA2, STK11,\nNBN, ATM, CHEK2, PALB2, TP53, PTEN, CDH1, RAD51D,\nRAD51C, BRIP1, RAD50, XRCC2, RAD51B, NF1, EPCAM,\nMLH1, MSH2, MSH6, PMS2, BARD1, MRE11A, FANCC,\nBLM, FAM175A, RINT1, FANCM, RECQL）を含む119遺伝子","en":"119 genes including known causal genes of HBOC syndrome\n(BRCA1, BRCA2, STK11, NBN, ATM, CHEK2, PALB2,\nTP53, PTEN, CDH1, RAD51D, RAD51C, BRIP1, RAD50,\nXRCC2, RAD51B, NF1, EPCAM, MLH1, MSH2, MSH6,\nPMS2, BARD1, MRE11A, FANCC, BLM, FAM175A,\nRINT1, FANCM, RECQL, etc.)"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"sureselect-custom","label":{"en":"SureSelect Custom"}},{"code":"kapa-hyperplus-kit","label":{"en":"KAPA HyperPlus Kit"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"type":"text","text":{"ja":"血液 108検体：超音波断片化（Covaris）\n腫瘍 49検体：超音波断片化（Covaris）\n腫瘍 75検体：酵素反応（KAPA HyperPlus Kit）","en":"blood 108 samples : Ultrasonic fragmentation (Covaris)\ntumor 49 samples : Ultrasonic fragmentation (Covaris)\ntumor 75 samples : Enzymatic fragmentation (DNase included in KAPA HyperPlus Kit)"}},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-hiseq-2000","label":{"en":"Illumina HiSeq 2000"}}]},{"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":101,"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":239246109536,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}}]}