{"id":"JGAD001104","secondaryIds":[],"research":"hum0607","url":"https://humandbs.dbcls.jp/dataset/JGAD001104","datePublished":"2026-10-01","dateModified":"2026-10-01","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":{"ja":"Targeted DNA sequencing","en":"Targeted DNA sequencing"},"values":[{"key":"materials-and-participants","label":{"ja":"試料 / 対象者","en":"Materials and participants"},"type":"text","text":{"ja":"ALK遺伝子異常を有する希少がん（ICD10：C00-C80）：24症例\n血漿中cfDNA：24検体\nバフィーコートより抽出したDNA：19検体","en":"Rare Cancers Harboring ALK Alterations (ICD10: C00-C80): 24 cases\ncfDNA in plasma samples: 24 samples\ngDNA extracted from buffy coats: 19 samples"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"C00","label":{"ja":"口唇の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of lip"}},{"code":"C01","label":{"ja":"舌根＜基底＞部の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of base of tongue"}},{"code":"C02","label":{"ja":"舌のその他及び部位不明の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and unspecified parts of tongue"}},{"code":"C03","label":{"ja":"歯肉の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of gum"}},{"code":"C04","label":{"ja":"口（腔）底の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of floor of mouth"}},{"code":"C05","label":{"ja":"口蓋の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of palate"}},{"code":"C06","label":{"ja":"その他及び部位不明の口腔の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and unspecified parts of mouth"}},{"code":"C07","label":{"ja":"耳下腺の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of parotid gland"}},{"code":"C08","label":{"ja":"その他及び部位不明の大唾液腺の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and unspecified major salivary glands"}},{"code":"C09","label":{"ja":"扁桃の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of tonsil"}},{"code":"C10","label":{"ja":"中咽頭の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of oropharynx"}},{"code":"C11","label":{"ja":"鼻＜上＞咽頭の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of nasopharynx"}},{"code":"C12","label":{"ja":"梨状陥凹＜洞＞の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of piriform sinus"}},{"code":"C13","label":{"ja":"下咽頭の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of hypopharynx"}},{"code":"C14","label":{"ja":"その他及び部位不明確の口唇，口腔及び咽頭の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and ill-defined sites in the lip, oral cavity and pharynx"}},{"code":"C15","label":{"ja":"食道の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of oesophagus"}},{"code":"C16","label":{"ja":"胃の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of stomach"}},{"code":"C17","label":{"ja":"小腸の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of small intestine"}},{"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"}},{"code":"C21","label":{"ja":"肛門及び肛門管の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of anus and anal canal"}},{"code":"C22","label":{"ja":"肝及び肝内胆管の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of liver and intrahepatic bile ducts"}},{"code":"C23","label":{"ja":"胆のう＜嚢＞の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of gallbladder"}},{"code":"C24","label":{"ja":"その他及び部位不明の胆道の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and unspecified parts of biliary tract"}},{"code":"C25","label":{"ja":"膵の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of pancreas"}},{"code":"C26","label":{"ja":"その他及び部位不明確の消化器の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and ill-defined digestive organs"}},{"code":"C30","label":{"ja":"鼻腔及び中耳の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of nasal cavity and middle ear"}},{"code":"C31","label":{"ja":"副鼻腔の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of accessory sinuses"}},{"code":"C32","label":{"ja":"喉頭の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of larynx"}},{"code":"C33","label":{"ja":"気管の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of trachea"}},{"code":"C34","label":{"ja":"気管支及び肺の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of bronchus and lung"}},{"code":"C37","label":{"ja":"胸腺の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of thymus"}},{"code":"C38","label":{"ja":"心臓，縦隔及び胸膜の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of heart, mediastinum and pleura"}},{"code":"C39","label":{"ja":"その他及び部位不明確の呼吸器系及び胸腔内臓器の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and ill-defined sites in the respiratory system and intrathoracic organs"}},{"code":"C40","label":{"ja":"（四）肢の骨及び関節軟骨の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of bone and articular cartilage of limbs"}},{"code":"C41","label":{"ja":"その他及び部位不明の骨及び関節軟骨の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of bone and articular cartilage of other and unspecified sites"}},{"code":"C43","label":{"ja":"皮膚の悪性黒色腫","en":"Malignant melanoma of skin"}},{"code":"C44","label":{"ja":"皮膚のその他の悪性新生物＜腫瘍＞","en":"Other malignant neoplasms of skin"}},{"code":"C45","label":{"ja":"中皮腫","en":"Mesothelioma"}},{"code":"C46","label":{"ja":"カポジ＜Kaposi＞肉腫","en":"Kaposi sarcoma"}},{"code":"C47","label":{"ja":"末梢神経及び自律神経系の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of peripheral nerves and autonomic nervous system"}},{"code":"C48","label":{"ja":"後腹膜及び腹膜の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of retroperitoneum and peritoneum"}},{"code":"C49","label":{"ja":"その他の結合組織及び軟部組織の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other connective and soft tissue"}},{"code":"C50","label":{"ja":"乳房の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of breast"}},{"code":"C51","label":{"ja":"外陰（部）の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of vulva"}},{"code":"C52","label":{"ja":"腟の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of vagina"}},{"code":"C53","label":{"ja":"子宮頚部の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of cervix uteri"}},{"code":"C54","label":{"ja":"子宮体部の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of corpus uteri"}},{"code":"C55","label":{"ja":"子宮の悪性新生物＜腫瘍＞，部位不明","en":"Malignant neoplasm of uterus, part unspecified"}},{"code":"C56","label":{"ja":"卵巣の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of ovary"}},{"code":"C57","label":{"ja":"その他及び部位不明の女性生殖器の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and unspecified female genital organs"}},{"code":"C58","label":{"ja":"胎盤の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of placenta"}},{"code":"C60","label":{"ja":"陰茎の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of penis"}},{"code":"C61","label":{"ja":"前立腺の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of prostate"}},{"code":"C62","label":{"ja":"精巣＜睾丸＞の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of testis"}},{"code":"C63","label":{"ja":"その他及び部位不明の男性生殖器の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and unspecified male genital organs"}},{"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"}},{"code":"C65","label":{"ja":"腎盂の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of renal pelvis"}},{"code":"C66","label":{"ja":"尿管の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of ureter"}},{"code":"C67","label":{"ja":"膀胱の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of bladder"}},{"code":"C68","label":{"ja":"その他及び部位不明の尿路の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and unspecified urinary organs"}},{"code":"C69","label":{"ja":"眼及び付属器の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of eye and adnexa"}},{"code":"C70","label":{"ja":"髄膜の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of meninges"}},{"code":"C71","label":{"ja":"脳の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of brain"}},{"code":"C72","label":{"ja":"脊髄，脳神経及びその他の中枢神経系の部位の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system"}},{"code":"C73","label":{"ja":"甲状腺の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of thyroid gland"}},{"code":"C74","label":{"ja":"副腎の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of adrenal gland"}},{"code":"C75","label":{"ja":"その他の内分泌腺及び関連組織の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other endocrine glands and related structures"}},{"code":"C76","label":{"ja":"その他及び部位不明確の悪性新生物＜腫瘍＞","en":"Malignant neoplasm of other and ill-defined sites"}},{"code":"C77","label":{"ja":"リンパ節の続発性及び部位不明の悪性新生物＜腫瘍＞","en":"Secondary and unspecified malignant neoplasm of lymph nodes"}},{"code":"C78","label":{"ja":"呼吸器及び消化器の続発性悪性新生物＜腫瘍＞","en":"Secondary malignant neoplasm of respiratory and digestive organs"}},{"code":"C79","label":{"ja":"その他の部位及び部位不明の続発性悪性新生物＜腫瘍＞","en":"Secondary malignant neoplasm of other and unspecified sites"}},{"code":"C80","label":{"ja":"悪性新生物＜腫瘍＞，部位が明示されていないもの","en":"Malignant neoplasm, without specification of site"}}],"name":{"ja":"ALK遺伝子異常を有する希少がん","en":"Rare Cancers Harboring ALK Alterations"}}]},{"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":24,"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":"population","label":{"ja":"対象集団","en":"Population"},"type":"vocabulary","terms":[{"code":"japanese","label":{"ja":"日本人","en":"Japanese"}}]},{"key":"sample-description","label":{"ja":"試料説明","en":"Sample description"},"type":"text","text":{"ja":"血漿中cfDNAおよびgDNA","en":"cfDNA in plasma samples or gDNA in buffy coats"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"buffy-coat","label":{"ja":"バフィーコート","en":"buffy coat"}},{"code":"plasma","label":{"ja":"血漿","en":"Plasma"}},{"code":"cfdna","label":{"en":"cfDNA"}}]},{"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":"購入試料の入手元","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":"対象領域","en":"Target"},"type":"text","text":{"ja":"737遺伝子（Todai OncoPanel version 6）","en":"737 genes (Todai OncoPanel version 6)"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"twist-library-preparation-ef-kit","label":{"en":"Twist Library Preparation EF Kit"}},{"code":"twist-umi-adapter-system","label":{"en":"Twist UMI Adapter System"}}]},{"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-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":139.9,"unit":"bp","high":null,"suffix":{"ja":" (平均)","en":" (Mean)"}}]},{"key":"reference-sequence","label":{"ja":"参照ゲノム","en":"Reference genome"},"type":"vocabulary","terms":[{"code":"grch38","label":{"en":"GRCh38"}}]},{"key":"mapping","label":{"ja":"マッピング","en":"Mapping"},"type":"text","text":{"ja":"bwa mem","en":"bwa mem"}},{"key":"mapping-quality","label":{"ja":"マッピング品質","en":"Mapping quality"},"type":"text","text":{"ja":"平均 32.2","en":"32.2 on average"}},{"key":"coverage-depth","label":{"ja":"カバレッジ (深度)","en":"Coverage (depth)"},"type":"number","numbers":[{"value":1616.9,"unit":"x","high":null,"suffix":{"ja":" (平均)","en":" (Mean)"}}]},{"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":573709681062,"fileFormats":[{"code":"bam","label":{"en":"BAM"}}]}