{"id":"JGAD000954","research":"hum0516","url":"https://humandbs.dbcls.jp/dataset/JGAD000954","datePublished":"2026-05-21","dateModified":"2026-05-21","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：C50.9）：127症例\n原発性99症例：105検体\n転移再発34症例：45検体\n*以下の同一症例から複数検体を解析対象とした例を含む\n5症例：原発性2検体（術前化学療法前後の1検体ずつ）\n1症例：原発性2検体（術前化学療法前後の1検体ずつ）および転移再発1検体の合計3検体\n5症例：原発性1検体および転移再発1検体の合計2検体\n7症例：転移再発2検体\n2症例：転移再発3検体","en":"breast cancer (ICD10: C50.9): 127 cases\npBC 99 cases: 105 samples\nmBC 34 cases: 45 samples\nDetails:\n99 pBC patients, 99: before initial treatment, 6: plus after the neoadjuvant therapy.\n34 mBC patients, at time point observed recurrence/distant metastasis (one; 25 samples, two; 7 samples and three; 2 samples).\nOf these samples, 6 patients had samples with both pBC and mBC."}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"C509","label":{"ja":"乳房，部位不明","en":"Malignant neoplasm: Breast, unspecified"}}],"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":127,"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":"mixed","label":{"ja":"混在","en":"Mixed"}}]},{"key":"sample-description","label":{"ja":"試料説明","en":"Sample description"},"type":"text","text":{"ja":"末梢血血漿中cfDNA","en":"cfDNA in blood"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"peripheral-blood","label":{"ja":"末梢血","en":"Peripheral blood"}},{"code":"cfdna","label":{"en":"cfDNA"}}]},{"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":"26遺伝子（AHNAK、APH1A、ATIC、AVL9、BRD8、CASP14、CCDC50、CLN3、CYP1A1、DBNDD1、ERBB2、ESR1、ESRP2、KDM2A、KYNU、LRBA、MFSD10、RERE、SDK1、SIDT2、SLC12A5、SYNPO2、SYTL2、TUBG2、USP34、VPS28）","en":"26 genes (RERE, APH1A, AHNAK, SYTL2, CYP1A1, CLN3, ESRP2, DBNDD1, USP34, MFSD10, LRBA, BRD8, VPS28, KDM2A, SIDT2, ERBB2, TUBG2, CASP14, KYNU, ATIC, SLC12A5, CCDC50, SYNPO2, ESR1, SDK1, and AVL9)"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"kapa-hyper-prep-kit","label":{"en":"KAPA Hyper Prep Kit"}},{"code":"xgen-duplex-seq-adapter-tech-access","label":{"en":"xGen Duplex Seq Adapter-Tech Access"}}]},{"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-novaseq-6000","label":{"en":"Illumina NovaSeq 6000"}}]},{"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":null}]},{"key":"reference-sequence","label":{"ja":"参照ゲノム","en":"Reference genome"},"type":"vocabulary","terms":[{"code":"grch37","label":{"en":"GRCh37"}}]},{"key":"mapping","label":{"ja":"マッピング","en":"Mapping"},"type":"text","text":{"ja":"Burrows-Wheeler aligner（BWA; version 0.5.9-r16）","en":"Burrows-Wheeler aligner (BWA; version 0.5.9-r16)"}},{"key":"mapping-quality","label":{"ja":"マッピング品質","en":"Mapping quality"},"type":"text","text":{"ja":"MAPQ によるフィルタリングは実施していない","en":"MAPQ filtering was not applied."}},{"key":"coverage-depth","label":{"ja":"カバレッジ (深度)","en":"Coverage (depth)"},"type":"number","numbers":[{"value":200,"unit":"x","high":null}]},{"key":"processed-data-type","label":{"ja":"加工データの種類","en":"Processed data type"},"type":"vocabulary","terms":[{"code":"alignment","label":{"ja":"アライメント","en":"Alignment"}}]},{"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":68814101455,"fileFormats":[{"code":"bam","label":{"en":"BAM"}}]}