{"id":"NHA000184","research":"hum0014","url":"https://humandbs.dbcls.jp/dataset/NHA000184","datePublished":"2023-04-05","dateModified":"2023-04-05","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":"心房細動患者9,826症例および対照者140,446名のGWAS（BBJ）\n心房細動患者77,690症例および対照者1,167,040名のGWASメタ解析（BBJ、欧米人、FinnGen）","en":"GWAS for 9,826 AF patients and 140,446 controls from BBJ 1st cohort\nGWAS meta-analysis for 77,690 AF patients and 1,167,040 controls"}}],"experiments":[{"label":"Genotyping by array","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"心房細動（ICD10：I48）：77,690症例、対照者：1,167,040名\nBBJ：心房細動：9,826症例、対照者：140,446名\n欧米人：心房細動：60,620症例、対照者：970,216名\nFinnGen：心房細動：7,244症例、対照者：56,378名","en":"77,690 atrial fibrillation patients and 1,167,040 controls\nBBJ: 9,826 atrial fibrillation patients and 140,446 controls\nEuropean: 60,620 atrial fibrillation patients and 970,216 controls\nFinnGen: 7,244 atrial fibrillation patients and 56,378 controls"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"I48","label":{"ja":"心房細動及び粗動","en":"Atrial fibrillation and flutter"}}],"name":{"ja":"心房細動","en":"atrial fibrillation 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":1244730,"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"}},{"code":"european","label":{"ja":"ヨーロッパ人","en":"European"}},{"code":"finnish","label":{"ja":"フィンランド人","en":"Finnish"}}]},{"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\n欧米GWAS：http://csg.sph.umich.edu/willer/public/afib2018\nFinnGen GWAS：https://www.finngen.fi/en","en":"DNA extracted from peripheral blood cells\nEuropean GWAS: http://csg.sph.umich.edu/willer/public/afib2018\nFinnGen GWAS: https://www.finngen.fi/en"}},{"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":"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":"filtering","label":{"ja":"QC・フィルタリング","en":"QC and filtering"},"type":"text","text":{"ja":"BBJ GWAS：imputation quality（Rsq） < 0.3 または MAF < 0.001 を除外\nメタ解析GWAS：MAF < 1% を除外","en":"BBJ GWAS: variants with imputation quality (Rsq) < 0.3 or MAF < 0.001 were excluded\nmeta-analysis: variants with MAF < 1% were excluded"}},{"key":"imputation","label":{"ja":"インピュテーション","en":"Imputation"},"type":"text","text":{"ja":"minimac [imputation（1000 genomes Phase I v3 ）]","en":"minimac [imputation (1000 genomes Phase I v3)]"}},{"key":"analysis-methods","label":{"ja":"解析方法","en":"Analysis method"},"type":"text","text":{"ja":"GenCall software（GenomeStudio）","en":"GenCall software (GenomeStudio), minimac [imputation (1000 genomes Phase I v3)]"}},{"key":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":16817144,"unit":null,"high":null,"prefix":{"ja":"BBJ GWAS: ","en":"BBJ GWAS: "},"suffix":{"ja":" SNPs","en":" SNPs"}},{"value":5158449,"unit":null,"high":null,"prefix":{"ja":"メタ解析GWAS: ","en":"Meta-analysis GWAS: "},"suffix":{"ja":" SNPs","en":" SNPs"}}]},{"key":"processed-data-type","label":{"ja":"加工データの種類","en":"Processed data type"},"type":"vocabulary","terms":[{"code":"gwas-summary-statistics","label":{"ja":"GWAS 要約統計量","en":"GWAS summary statistics"}},{"code":"polygenic-risk-score","label":{"ja":"ポリジェニックリスクスコア","en":"Polygenic risk score"}}]},{"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":"zip","label":{"en":"ZIP"}}]}