{"id":"JGAD001007","research":"hum0552","url":"https://humandbs.dbcls.jp/dataset/JGAD001007","datePublished":"2025-12-24","dateModified":"2025-12-24","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":"腹部大動脈瘤（ICD10：I71.3、I71.4）：44症例\n末梢血：44検体","en":"abdominal aortic aneurysm (ICD10: I71.3, I71.4): 44 cases\nperipheral blood: 44 samples"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"I713","label":{"ja":"腹部大動脈瘤，破裂性","en":"Abdominal aortic aneurysm, ruptured"}},{"code":"I714","label":{"ja":"腹部大動脈瘤，破裂の記載がないもの","en":"Abdominal aortic aneurysm, without mention of rupture"}}],"name":{"ja":"腹部大動脈瘤","en":"abdominal aortic aneurysm"}}]},{"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":44,"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":"末梢血から抽出したDNA","en":"DNAs extracted from peripheral blood"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"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":"normal","label":{"ja":"非腫瘍","en":"Normal"}}]},{"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":"ASXL1（11-13）、ATM（1-63）、CBL（8-9）、CHEK2（2-15）、DNMT3A（1-23）、EZH2（2-20）、GNB1（5-7）、JAK2（12-16）、PHF6（2-10）、PPM1D（6）、RUNX1（1-9）、SF3B1（13-18）、SMC1A（1-25）、SRSF2（2）、TET2（3-11）、TP53（1-11）\nカッコ内はExon番号を示す","en":"ASXL1 (11-13), ATM (1-63), CBL (8-9), CHEK2 (2-15), DNMT3A (1-23), EZH2 (2-20), GNB1 (5-7), JAK2 (12-16), PHF6 (2-10), PPM1D (6), RUNX1 (1-9), SF3B1 (13-18), SMC1A (1-25), SRSF2 (2), TET2 (3-11), TP53 (1-11)\nnumbers reveal exon numbers"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"variantplex","label":{"en":"VariantPlex"}},{"code":"mbc-adapter-kit-for-illumina","label":{"en":"MBC adapter kit for Illumina"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"type":"text","text":{"ja":"酵素反応","en":"Enzymatic fragmentation"}},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-novaseq-x","label":{"en":"Illumina NovaSeq X"}}]},{"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":"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":100126820546,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}}]}