{"id":"DRA014819","research":"hum0335","url":"https://humandbs.dbcls.jp/dataset/DRA014819","datePublished":"2022-09-13","dateModified":"2022-09-13","values":[{"key":"access-criteria","label":{"ja":"アクセス制限","en":"Access criteria"},"type":"vocabulary","terms":[{"code":"unrestricted-access","label":{"ja":"非制限公開","en":"Unrestricted-access"}}]},{"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":"WM （ICD10: C880）：10症例\n骨髄単核球：5検体、末梢血単核球：1検体、骨髄ホルマリン固定パラフィン包埋（FFPE）検体：2検体、リンパ節FFPE検体：2検体\nnon IgM-type LPL （ICD10: C830）：10症例\n骨髄単核球：3検体、末梢血単核球：3検体、骨髄FFPE検体：4検体","en":"Waldenström macroglobulinemia (ICD10: C880): 10 cases\n5 bone marrow mononuclear cells\n1 peripheral blood mononuclear cell\n2 bone marrow formalin-fixed paraffin-embedded (FFPE) specimens\n2 lymph node FFPE specimens\nnon IgM-type LPL (ICD10: C830): 10 cases\n3 bone marrow mononuclear cells\n3 peripheral blood mononuclear cells\n4 bone marrow FFPE specimens"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"C880","label":{"ja":"ワルデンシュトレーム＜Waldenstrom＞マクログロブリン血症","en":"Waldenström macroglobulinaemia"}}],"name":{"ja":"WM","en":"Waldenström macroglobulinemia"}},{"terms":[{"code":"C830","label":{"ja":"小細胞型B細胞性リンパ腫","en":"Small cell B-cell lymphoma"}}],"name":{"ja":"non IgM-type LPL","en":"non IgM-type LPL"}}]},{"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":20,"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":"骨髄単核球、末梢血単核球、骨髄FFPE検体およびリンパ節FFPE検体から抽出したDNA","en":"DNAs extracted from bone marrow mononuclear cells, peripheral blood mononuclear cells, bone marrow FFPE specimens or lymph node FFPE specimens"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"bone-marrow","label":{"ja":"骨髄","en":"Bone marrow"}},{"code":"bone-marrow-mononuclear-cell","label":{"en":"Bone marrow mononuclear cell"}},{"code":"peripheral-blood","label":{"ja":"末梢血","en":"Peripheral blood"}},{"code":"pbmc","label":{"ja":"末梢血単核球 (PBMC)","en":"PBMC"}},{"code":"lymph-node","label":{"ja":"リンパ節","en":"Lymph node"}}]},{"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":"ARID1A、NOTCH2、CXCR4、MYD88、PRDM1、CD274、PDCD1LG2、RAG2、KMT2D、MYBBP1A、TP53、CD79B","en":"ARID1A, NOTCH2, CXCR4, MYD88, PRDM1, CD274, PDCD1LG2, RAG2, KMT2D, MYBBP1A, TP53, CD79B"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"ampliseq-custom-panel","label":{"en":"AmpliSeq Custom Panel"}}]},{"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":"illumina-nextseq-500","label":{"en":"Illumina NextSeq 500"}}]},{"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":151,"unit":"bp","high":null}]},{"key":"reference-sequence","label":{"ja":"参照ゲノム","en":"Reference genome"},"type":"vocabulary","terms":[{"code":"grch37","label":{"en":"GRCh37"}}]},{"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":9912067366,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}}]}