{"id":"NHA000189","research":"hum0311","url":"https://humandbs.dbcls.jp/dataset/NHA000189","datePublished":"2023-07-27","dateModified":"2023-07-27","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":"消化性潰瘍のGWAS","en":"GWAS for peptic ulcers"}}],"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":"消化性潰瘍（ICD10：K27.9）、十二指腸潰瘍（ICD10：K26.9）、胃潰瘍（ICD10：K25.9）\n- BBJ1-180K：潰瘍（19,713名）、対照（153,178名）\n- BBJ1-12K：潰瘍（1,001名）、対照（8,617名）\n- BBJ2-42K：潰瘍（3,637名）、対照（3,4647名）\n- EAS meta-analysis：潰瘍（29,739名）、対照（240,675名）\n（BBJ180K、BBJ1-12K、BBJ2-42K、TMM-50K）\n- Cross-ancestry meta-analysis：潰瘍（52,032名）、対照（905,344名）\n（BBJ180K、BBJ1-12K、BBJ2-42K、TMM-50K、FinnGen、UKB）\n※詳細はこちら","en":"peptic ulcer (ICD10: K27.9), duodenal ulcer (ICD10: K26.9), gastric ulcer (ICD10: K25.9)\n- BBJ1-180K: ulcers (n = 19,713), control (n = 153,178)\n- BBJ1-12K: ulcers (n = 1,001), control (n = 8,617)\n- BBJ2-42K: ulcers (n = 3,637), control (n = 34,647)\n- EAS meta-analysis: ulcers (n = 29,739), control (n = 240,675)\n(BBJ180K, BBJ1-12K, BBJ2-42k, and TMM-50K)\n- Cross-ancestry meta-analysis (EAS and EUR): ulcers (n = 52,032), control (n = 905,344)\n(BBJ180K, BBJ1-12K, BBJ2-42k, TMM-50K, FinnGen, and UKB)\n* Detailed information on participants"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"K279","label":{"ja":"部位不明の消化性潰瘍，急性又は慢性の別不明，出血又は穿孔を伴わないもの","en":"Peptic ulcer, site unspecified: Unspecified as acute or chronic, without haemorrhage or perforation"}}],"name":{"ja":"消化性潰瘍","en":"peptic ulcer"}},{"terms":[{"code":"K269","label":{"ja":"十二指腸潰瘍，急性又は慢性の別不明，出血又は穿孔を伴わないもの","en":"Duodenal ulcer: Unspecified as acute or chronic, without haemorrhage or perforation"}}],"name":{"ja":"十二指腸潰瘍","en":"duodenal ulcer"}},{"terms":[{"code":"K259","label":{"ja":"胃潰瘍，急性又は慢性の別不明，出血又は穿孔を伴わないもの","en":"Gastric ulcer: Unspecified as acute or chronic, without haemorrhage or perforation"}}],"name":{"ja":"胃潰瘍","en":"gastric ulcer"}}]},{"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":957376,"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":"cohort","label":{"ja":"コホート","en":"Cohort"},"type":"vocabulary","terms":[{"code":"biobank-japan","label":{"en":"BioBank Japan"}},{"code":"tohoku-medical-megabank","label":{"en":"Tohoku Medical Megabank"}},{"code":"finngen","label":{"en":"FinnGen"}},{"code":"uk-biobank","label":{"en":"UK Biobank"}}]},{"key":"population","label":{"ja":"対象集団","en":"Population"},"type":"vocabulary","terms":[{"code":"east-asian","label":{"ja":"東アジア人","en":"East Asian"}},{"code":"european","label":{"ja":"ヨーロッパ人","en":"European"}}]},{"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":"normal","label":{"ja":"非腫瘍","en":"Normal"}}]},{"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":"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"}},{"code":"infinium-asian-screening-array-kit","label":{"en":"Infinium Asian Screening Array Kit"}},{"code":"axiom-2-0-reagent-kit","label":{"en":"Axiom 2.0 Reagent Kit"}},{"code":"uk-bileve-axiom-array","label":{"en":"UK BiLEVE Axiom Array"}},{"code":"uk-biobank-axiom-array","label":{"en":"UK Biobank Axiom Array"}},{"code":"finngen1-thermofisher-array","label":{"en":"FinnGen1 ThermoFisher Array"}}]},{"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"}},{"code":"illumina-infinium-asian-screening-array","label":{"en":"Illumina Infinium Asian Screening Array"}},{"code":"affymetrix-japonica-array","label":{"en":"Affymetrix Japonica Array"}},{"code":"applied-biosystems-uk-bileve-axiom-array","label":{"en":"Applied Biosystems UK BiLEVE Axiom Array"}},{"code":"applied-biosystems-uk-biobank-axiom-array","label":{"en":"Applied Biosystems UK Biobank Axiom Array"}},{"code":"thermo-fisher-scientific-finngen1-thermofisher-array","label":{"en":"Thermo Fisher Scientific FinnGen1 ThermoFisher Array"}}]},{"key":"filtering","label":{"ja":"QC・フィルタリング","en":"QC and filtering"},"type":"text","text":{"ja":"Rsq < 0.3 および MAC < 20 のバリアントを除外\n※Sample QC、Variant QCの詳細はDictionary fileをご参照ください。","en":"Variants with imputation quality (Rsq) < 0.3 or MAC < 20 were excluded\n*Sample QC and Variant QC were described in the Dictionary file"}},{"key":"imputation","label":{"ja":"インピュテーション","en":"Imputation"},"type":"text","text":{"ja":"Phasing: eagle2\nImputation: minimac4 [reference: 1KGP p3v5 ALL]","en":"Pre-phasing: eagle2\nImputation: minimac4 [reference: 1KGP p3v5 ALL]"}},{"key":"analysis-methods","label":{"ja":"解析方法","en":"Analysis method"},"type":"text","text":{"ja":"Genotype Call: GenomeStudio","en":"Genotype Call: GenomeStudio"}},{"key":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":12013066,"unit":null,"high":null,"prefix":{"ja":"BBJ1-180K GWAS: ","en":"BBJ1-180K GWAS: "},"suffix":{"ja":" variants (約)","en":" variants (Approx.)"}},{"value":10836527,"unit":null,"high":null,"prefix":{"ja":"BBJ1-12K GWAS: ","en":"BBJ1-12K GWAS: "},"suffix":{"ja":" variants (約)","en":" variants (Approx.)"}},{"value":11504022,"unit":null,"high":null,"prefix":{"ja":"BBJ2-42K GWAS: ","en":"BBJ2-42K GWAS: "},"suffix":{"ja":" variants (約)","en":" variants (Approx.)"}},{"value":13846852,"unit":null,"high":null,"prefix":{"ja":"EAS特異的メタ解析: ","en":"EAS-specific meta-analysis: "},"suffix":{"ja":" variants (約)","en":" variants (Approx.)"}},{"value":19078654,"unit":null,"high":null,"prefix":{"ja":"多祖先メタ解析: ","en":"Cross-ancestry meta-analysis: "},"suffix":{"ja":" variants (約)","en":" variants (Approx.)"}}]},{"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":"tsv","label":{"en":"TSV"}},{"code":"docx","label":{"en":"DOCX"}}]}