{"id":"JGAD000291","research":"hum0203","url":"https://humandbs.dbcls.jp/dataset/JGAD000291","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":"多発性骨髄腫（ICD10：C900）：154症例\n原発巣：154検体\n再発巣：6検体\n末梢血単核球細胞：23検体","en":"MM (ICD10: C900): 154 cases\nprimary tumor tissues: 154 samples\nrecurrent tumor tissues: 6 samples\nperipheral blood mononuclear cells as a normal sample: 23 samples"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"C900","label":{"ja":"多発性骨髄腫","en":"Multiple myeloma"}}],"name":{"ja":"多発性骨髄腫","en":"MM"}}]},{"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":183,"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":"骨髄穿刺にて採取した骨髄液をCD138にてソートした凍結骨髄細胞および末梢血単核球細胞より抽出したDNA","en":"DNAs extracted from frozen bone marrow CD138 positive cells isolated from bone marrow aspirates and peripheral blood mononuclear cells"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"bone-marrow","label":{"ja":"骨髄","en":"Bone marrow"}},{"code":"peripheral-blood","label":{"ja":"末梢血","en":"Peripheral blood"}},{"code":"pbmc","label":{"ja":"末梢血単核球 (PBMC)","en":"PBMC"}}]},{"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":"340遺伝子＋免疫グロブリン再構成領域（IGH, IGK, IGL）","en":"340 genes + immunoglobulin variable regions (IGH, IGK, IGL)"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"sureselect-custom","label":{"en":"SureSelect Custom"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"type":"text","text":{"ja":"超音波断片化（Covaris ME220）","en":"Ultrasonic fragmentation (Covaris ME220)"}},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-hiseq-2500","label":{"en":"Illumina HiSeq 2500"}}]},{"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":100,"unit":"bp","high":200}]},{"key":"reference-sequence","label":{"ja":"参照ゲノム","en":"Reference genome"},"type":"vocabulary","terms":[{"code":"grch37","label":{"en":"GRCh37"}}]},{"key":"processed-data-type","label":{"ja":"加工データの種類","en":"Processed data type"},"type":"vocabulary","terms":[{"code":"variant-calls","label":{"ja":"変異コール","en":"Variant calls"}}]},{"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":274023757568,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}},{"code":"vcf","label":{"en":"VCF"}}]}