{"id":"JGAD000848","research":"hum0127","url":"https://humandbs.dbcls.jp/dataset/JGAD000848","datePublished":"2024-07-10","dateModified":"2024-07-10","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（WGS；腫瘍組織由来の変異情報）","en":"NGS (WGS)"}}],"experiments":[{"label":"WGS","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"全エクソンシーケンシングおよび全遺伝子発現解析などでドライバー遺伝子に変化が認められなかったがん患者（ICD10：C169, C170, C18（180, 182, 184, 186, 187）, C20, C220, C349, C433, C437, C445, C541, C56, C787, C793, C795, C08.1）：177症例\n腫瘍組織：177検体\n非腫瘍組織：177検体","en":"cancer (ICD10: C169, C170, C18 (180, 182, 184, 186, 187), C20, C220, C349, C433, C437, C445, C541, C56, C787, C793, C795, C08.1): 177 cases in which no changes in driver genes were detected by whole exon sequencing and whole gene expression analysis\ntumor tissue: 177 samples\npaired peripheral blood cells: 177 samples"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"C169","label":{"ja":"胃，部位不明","en":"Malignant neoplasm: Stomach, unspecified"}},{"code":"C170","label":{"ja":"十二指腸","en":"Malignant neoplasm: Duodenum"}},{"code":"C18","label":{"ja":"結腸の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of colon"}},{"code":"C180","label":{"ja":"盲腸","en":"Malignant neoplasm: Caecum"}},{"code":"C182","label":{"ja":"上行結腸","en":"Malignant neoplasm: Ascending colon"}},{"code":"C184","label":{"ja":"横行結腸","en":"Malignant neoplasm: Transverse colon"}},{"code":"C186","label":{"ja":"下行結腸","en":"Malignant neoplasm: Descending colon"}},{"code":"C187","label":{"ja":"S状結腸","en":"Malignant neoplasm: Sigmoid colon"}},{"code":"C20","label":{"ja":"直腸の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of rectum"}},{"code":"C220","label":{"ja":"肝細胞癌","en":"Malignant neoplasm: Liver cell carcinoma"}},{"code":"C349","label":{"ja":"気管支又は肺，部位不明","en":"Malignant neoplasm: Bronchus or lung, unspecified"}},{"code":"C433","label":{"ja":"その他及び部位不明の顔面の悪性黒色腫","en":"Malignant neoplasm: Malignant melanoma of other and unspecified parts of face"}},{"code":"C437","label":{"ja":"下肢の悪性黒色腫，股関節部を含む","en":"Malignant neoplasm: Malignant melanoma of lower limb, including hip"}},{"code":"C445","label":{"ja":"体幹の皮膚","en":"Malignant neoplasm: Skin of trunk"}},{"code":"C541","label":{"ja":"子宮内膜","en":"Malignant neoplasm: Endometrium"}},{"code":"C56","label":{"ja":"卵巣の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of ovary"}},{"code":"C787","label":{"ja":"肝及び肝内胆管の続発性悪性新生物＜腫瘍＞","en":"Secondary malignant neoplasm of liver and intrahepatic bile duct"}},{"code":"C793","label":{"ja":"脳及び脳髄膜の続発性悪性新生物＜腫瘍＞","en":"Secondary malignant neoplasm of brain and cerebral meninges"}},{"code":"C795","label":{"ja":"骨及び骨髄の続発性悪性新生物＜腫瘍＞","en":"Secondary malignant neoplasm of bone and bone marrow"}},{"code":"C081","label":{"ja":"舌下腺","en":"Malignant neoplasm: Sublingual gland"}}],"name":{"ja":"全エクソンシーケンシングおよび全遺伝子発現解析などでドライバー遺伝子に変化が認められなかったがん患者","en":"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":177,"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":"手術摘出組織（腫瘍組織）および末梢血の白血球（非腫瘍組織）から抽出したDNA","en":"DNAs extracted from peripheral blood cells (non-tumor tissues) and surgically dissected tumor tissues"}},{"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":"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":"wgs","label":{"en":"WGS"}}]},{"key":"targets","label":{"ja":"測定対象","en":"Target"},"type":"text","text":{"ja":null,"en":null}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"truseq-dna-pcr-free-library-prep-kit","label":{"en":"TruSeq DNA PCR-Free Library Prep Kit"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"type":"text","text":{"ja":"超音波断片化（Covaris）","en":"Ultrasonic fragmentation (Covaris)"}},{"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":150,"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":"DRAGEN DNA Pipeline","en":"DRAGEN DNA Pipeline"}},{"key":"mapping-quality","label":{"ja":"マッピング品質","en":"Mapping quality"},"type":"text","text":{"ja":"DRAGEN DNA Pipeline","en":"DRAGEN DNA Pipeline"}},{"key":"analysis-methods","label":{"ja":"解析方法","en":"Analysis method"},"type":"text","text":{"ja":"Illumina DRAGEN Secondary Analysis","en":"Illumina DRAGEN Secondary Analysis"}},{"key":"coverage-depth","label":{"ja":"カバレッジ (深度)","en":"Coverage (depth)"},"type":"number","numbers":[{"value":130.3,"unit":"x","high":null,"prefix":{"ja":"腫瘍サンプル: ","en":"Tumor samples: "}},{"value":115.7,"unit":"x","high":150.7,"prefix":{"ja":"腫瘍サンプル: ","en":"Tumor samples: "},"suffix":{"ja":" (範囲)","en":" (Range)"}},{"value":36.2,"unit":"x","high":null,"prefix":{"ja":"血液サンプル: ","en":"Blood samples: "}},{"value":28.8,"unit":"x","high":45.9,"prefix":{"ja":"血液サンプル: ","en":"Blood samples: "},"suffix":{"ja":" (範囲)","en":" (Range)"}}]},{"key":"processed-data-type","label":{"ja":"加工データの種類","en":"Processed data type"},"type":"vocabulary","terms":[{"code":"cnv","label":{"ja":"コピー数変化 (CNV)","en":"CNV"}},{"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":129067218,"fileFormats":[{"code":"vcf","label":{"en":"VCF"}},{"code":"tsv","label":{"en":"TSV"}}]}