{"id":"JGAD000460","research":"hum0014","url":"https://humandbs.dbcls.jp/dataset/JGAD000460","datePublished":"2023-05-01","dateModified":"2024-07-09","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":"リンパ腫1,982症例の遺伝性腫瘍関連27遺伝子翻訳領域のTarget Capture Sequencingデータ","en":"target sequencing of 27 cancer-predisposing genes in 1,982 lymphoma patients"}}],"experiments":[{"label":{"ja":"Targeted DNA sequencing","en":"Targeted DNA sequencing"},"values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"膵がん（ICD10：C25）：1,005症例\n大腸がん（ICD10：C18、C19、C20）：12,503症例\n腎がん（ICD10：C64）：740症例\nリンパ腫（ICD10：C81、C82、C83、C84、C85、C86、C88、C91）：1,982症例\n胃がん（ICD10：C16）：10,366症例\n対照者：23,705名＋5,996名＋37,592名","en":"1,005 pancreatic cancer patients (ICD10: C25)\n12,503 colorectal cancer patients (ICD10: C18, C19, C20)\n740 renal cell cancer patients (ICD10: C64)\n1,982 lymphoma patients (ICD10: C81, C82, C83, C84, C85, C86, C88, C91)\n10,366 gastric cancer patients (ICD10: C16)\n23,705 + 5,996 + 37,592 controls"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"C25","label":{"ja":"膵の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of pancreas"}}],"name":{"ja":"膵がん","en":"pancreatic cancer patients"}},{"terms":[{"code":"C18","label":{"ja":"結腸の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of colon"}},{"code":"C19","label":{"ja":"直腸S状結腸移行部の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of rectosigmoid junction"}},{"code":"C20","label":{"ja":"直腸の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of rectum"}}],"name":{"ja":"大腸がん","en":"colorectal cancer patients"}},{"terms":[{"code":"C64","label":{"ja":"腎盂を除く腎の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of kidney, except renal pelvis"}}],"name":{"ja":"腎がん","en":"renal cell cancer patients"}},{"terms":[{"code":"C81","label":{"ja":"ホジキン＜Hodgkin＞リンパ腫","en":"Hodgkin lymphoma"}},{"code":"C82","label":{"ja":"ろ＜濾＞胞性リンパ腫","en":"Follicular lymphoma"}},{"code":"C83","label":{"ja":"非ろ＜濾＞胞性リンパ腫","en":"Non-follicular lymphoma"}},{"code":"C84","label":{"ja":"成熟T/NK細胞リンパ腫","en":"Mature T/NK-cell lymphomas"}},{"code":"C85","label":{"ja":"非ホジキン＜non-Hodgkin＞リンパ腫のその他及び詳細不明の型","en":"Other and unspecified types of non-Hodgkin lymphoma"}},{"code":"C86","label":{"ja":"T/NK細胞リンパ腫のその他の明示された型","en":"Other specified types of T/NK-cell lymphoma"}},{"code":"C88","label":{"ja":"悪性免疫増殖性疾患","en":"Malignant immunoproliferative diseases"}},{"code":"C91","label":{"ja":"リンパ性白血病","en":"Lymphoid leukaemia"}}],"name":{"ja":"リンパ腫","en":"lymphoma patients"}},{"terms":[{"code":"C16","label":{"ja":"胃の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of stomach"}}],"name":{"ja":"胃がん","en":"gastric cancer patients"}}]},{"key":"health-status","label":{"ja":"健康状態","en":"Health status"},"type":"vocabulary","terms":[{"code":"mixed","label":{"ja":"混在","en":"Mixed"}}]},{"key":"subject-count","label":{"ja":"対象者数","en":"Subject count"},"type":"number","numbers":[{"value":93889,"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gDNA","en":"DNA 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":"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":"遺伝性腫瘍関連27遺伝子（APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDK4, CDKN2A, CDH1, CHEK2, EPCAM, HOXB13, NBN, NF1, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53）の翻訳領域","en":"27 cancer-predisposing genes (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDK4, CDKN2A, CDH1, CHEK2, EPCAM, HOXB13, NBN, NF1, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53)"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"2x-platinum-multiplex-pcr-master-mix","label":{"en":"2X Platinum Multiplex PCR Master Mix"}},{"code":"kapa-hifi-dna-polymerase","label":{"en":"KAPA HiFi DNA Polymerase"}}]},{"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-hiseq-2500","label":{"en":"Illumina HiSeq 2500"}}]},{"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":135263977892,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}}]}