{"id":"NHA000076","research":"hum0163","url":"https://humandbs.dbcls.jp/dataset/NHA000076","datePublished":"2018-12-14","dateModified":"2018-12-14","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":"精神・神経疾患及びがん患者：計990症例\nてんかん（ICD10：G402）・双極性障害（ICD10：F319）：343症例（ラモトリギン投与症例）\n統合失調症（ICD10：F209）：454症例\n乳がん（ICD10：C509）：65症例（トラスツズマブ投与症例）\n大腸がん（ICD10：C189）：83症例（レゴラフェニブ投与症例）\n悪性黒色腫（ICD10：C439）：45症例（ニボルマブ投与症例）","en":"990 patients with psychiatric/neurological disorders or cancers\n- epilepsy (ICD10: G402) / bipolar disorder (ICD10: F319): 343 cases (receiving lamotrigine)\n- schizophrenia (ICD10: F209): 454 cases\n- breast cancer (ICD10: C509): 65 cases (receiving trastuzumab)\n- colorectal cancer (ICD10: C189): 83 cases (receiving regorafenib)\n- malignant melanoma (ICD10: C439): 45 cases (receiving nivolumab)"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"G402","label":{"ja":"複雑部分発作を伴う（巣状）（部分）症候性てんかん及びてんかん（性）症候群","en":"Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures"}}],"name":{"ja":"てんかん","en":"epilepsy"}},{"terms":[{"code":"F319","label":{"ja":"双極性感情障害，詳細不明","en":"Bipolar affective disorder, unspecified"}}],"name":{"ja":"双極性障害","en":"/ bipolar disorder"}},{"terms":[{"code":"F209","label":{"ja":"統合失調症，詳細不明","en":"Schizophrenia, unspecified"}}],"name":{"ja":"統合失調症","en":"schizophrenia"}},{"terms":[{"code":"C509","label":{"ja":"乳房，部位不明","en":"Malignant neoplasm: Breast, unspecified"}}],"name":{"ja":"乳がん","en":"breast cancer"}},{"terms":[{"code":"C189","label":{"ja":"結腸，部位不明","en":"Malignant neoplasm: Colon, unspecified"}}],"name":{"ja":"大腸がん","en":"colorectal cancer"}},{"terms":[{"code":"C439","label":{"ja":"皮膚の悪性黒色腫，部位不明","en":"Malignant neoplasm: Malignant melanoma of skin, unspecified"}}],"name":{"ja":"悪性黒色腫","en":"malignant melanoma"}}]},{"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":990,"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 cells"}},{"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":"targeted-dna-sequencing","label":{"en":"Targeted DNA sequencing"}}]},{"key":"targets","label":{"ja":"測定対象","en":"Target"},"type":"text","text":{"ja":"薬物動態関連100遺伝子コーディング領域1846variants＋CYP2D6遺伝子のディプロタイプ＋NAT2遺伝子のディプロタイプ","en":"diplotype of coding regions of 100 pharmacogenes (1846 variants), CYP2D6 gene and NAT2 gene"}},{"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-miseq","label":{"en":"Illumina MiSeq"}}]},{"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":250,"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)"}}]}]}],"fileFormats":[{"code":"xlsx","label":{"en":"XLSX"}},{"code":"zip","label":{"en":"ZIP"}}]}