{"id":"NHA000117","research":"hum0014","url":"https://humandbs.dbcls.jp/dataset/NHA000117","datePublished":"2019-10-08","dateModified":"2019-10-08","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":"40疾患のGWAS","en":"GWAS for 40 diseases"}}],"experiments":[{"label":"Genotyping by array (GWAS)","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"42疾患（ICD10 code）\n不整脈（I499）、気管支喘息（J459）、アトピー性皮膚炎（L209）、\n胆嚢・胆管がん（C23, C240）、白内障（H269）、\n脳動脈瘤（I671）、子宮頸がん（C539）、B型慢性肝炎（B181）、\nC型慢性肝炎（B182）、COPD（J449）、肝硬変（K746）、\n大腸・直腸がん（C189, C20）、心不全（I509, I500）、薬疹（L270）、\n子宮体がん（C549）、子宮内膜症（N809）、てんかん（G409）、\n食道がん（C159）、胃がん（C169）、緑内障（H409）、バセドウ病（E050）、\n造血器腫瘍（C81-96）、肝がん（C220）、肺線維症（J849, J841）、\n脳梗塞（I639）、ケロイド（L910）、肺がん（C349）、\nネフローゼ症候群（N049）、骨粗鬆症（M8199）、卵巣がん（C56）、\n膵がん（C259）、歯周病（K054）、ASO（I709）、花粉症（J301）、\n前立腺がん（C61）、肺結核（A169）、関節リウマチ（M0690）、\n糖尿病（E14）、尿路結石症（N209）、子宮筋腫（D259）、乳がん（C509）\n虚血性心疾患（I200、I209、I219）","en":"42 disease (ICD10 code)\nArrhythmia (I499), Bronchial asthma (J459), Atopic dermatitis (L209),\nGallbladder/Cholangiocarcinoma (C23, C240), Cataract (H269),\nCerebral aneurysm (I671), Cervical cancer (C539),\nChronic hepatitis B (B181), Chronic hepatitis C (B182),\nChronic obstructive pulmonary disease (J449), Liver cirrhosis (K746),\nColorectal cancer (C189, C20), Heart failure (I509, I500),\nDrug eruption (L270), Uterine cancer (C549), Endometriosis (N809),\nEpilepsy (G409), Esophageal cancer (C159), Gastric cancer (C169),\nGlaucoma (H409), Graves' disease (E050), Hematopoietic tumor (C81-96),\nLiver cancer (C220), Interstitial lung disease/Pulmonary fibrosis (J849, J841),\nCerebral infarction (I639), Keloid (L910), Lung cancer (C349),\nNephrotic syndrome (N049), Osteoporosis (M8199), Ovarian cancer (C56),\nPancreas cancer (C259), Periodontitis (K054),\nPeripheral artery disease (I709), Hay fever (J301), Prostate cancer (C61),\nPulmonary tuberculosis (A169), Rheumatoid arthritis (M0690),\nDiabetes mellitus (E14), Urolithiasis (N209), Uterine fibroids (D259), Breast cancer (C509)\nCoronary artery disease (I200, I209, I219)"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"N049","label":{"ja":"ネフローゼ症候群，詳細不明","en":"Nephrotic syndrome: Unspecified"}}],"name":{"ja":"ネフローゼ症候群","en":"Nephrotic syndrome"}}]},{"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-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":"gDNA 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":"genotyping-by-array","label":{"en":"Genotyping by array"}}]},{"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":"humanomniexpress-beadchip-kit","label":{"en":"HumanOmniExpress BeadChip Kit"}},{"code":"humanexome-beadchip-kit","label":{"en":"HumanExome BeadChip Kit"}},{"code":"humanomniexpressexome-beadchip-kit","label":{"en":"HumanOmniExpressExome BeadChip Kit"}}]},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-humanomniexpress","label":{"en":"Illumina HumanOmniExpress"}},{"code":"illumina-humanexome","label":{"en":"Illumina HumanExome"}},{"code":"illumina-humanomniexpressexome","label":{"en":"Illumina HumanOmniExpressExome"}}]},{"key":"reference-sequence","label":{"ja":"参照ゲノム","en":"Reference genome"},"type":"vocabulary","terms":[{"code":"grch37","label":{"en":"GRCh37"}}]},{"key":"filtering","label":{"ja":"QC・フィルタリング","en":"QC and filtering"},"type":"text","text":{"ja":"Imputation後のQC:\nImputation quality (Rsq) < 0.7 を除外","en":"QC after imputation:\nExclusion criteria: Variants with imputation quality of Rsq < 0.7"}},{"key":"imputation","label":{"ja":"インピュテーション","en":"Imputation"},"type":"text","text":{"ja":"minimac3 [imputation(1000 genomes Phase 3 v5 )]","en":"Minimac3 [imputation (1000 genomes Phase 3 v5)]"}},{"key":"analysis-methods","label":{"ja":"解析方法","en":"Analysis method"},"type":"text","text":{"ja":"GenCall software（GenomeStudio）","en":"GenCall software (GenomeStudio)"}},{"key":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":8712794,"unit":null,"high":null,"prefix":{"ja":"常染色体: ","en":"Autosomes: "},"suffix":{"ja":" variants","en":" variants"}},{"value":207198,"unit":null,"high":null,"prefix":{"ja":"X染色体: ","en":"X chromosome: "},"suffix":{"ja":" variants","en":" variants"}}]},{"key":"processed-data-type","label":{"ja":"加工データの種類","en":"Processed data type"},"type":"vocabulary","terms":[{"code":"imputed-genotype-data","label":{"ja":"インピュテーション済み遺伝子型データ","en":"Imputed genotype data"}}]},{"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":"txt","label":{"en":"TXT"}},{"code":"xlsx","label":{"en":"XLSX"}},{"code":"zip","label":{"en":"ZIP"}}]}