{"id":"NHA000046","research":"hum0014","url":"https://humandbs.dbcls.jp/dataset/NHA000046","datePublished":"2016-02-02","dateModified":"2016-02-02","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":"アトピー性皮膚炎患者1,472症例および\n対照者7,966名のGWAS","en":"GWAS for AD"}}],"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":"アトピー性皮膚炎：1,472症例、\n対照者：7,966名（健常者およびアトピー性皮膚炎と気管支喘息のいずれも合併していない脳動脈瘤、食道がん、子宮体がん、肺気腫、緑内障の患者）","en":"1472 AD patients\n7966 controls (healthy individuals and patients with Intracranial aneurysm, Esophageal cancer,\nUterine cancer, Pulmonary emphysema, or Glaucoma [without AD and Bronchial asthma])"}},{"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":"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":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-humanomniexpress","label":{"en":"Illumina HumanOmniExpress"}}]},{"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":"GenotypingのQC：sample call rate < 0.98, SNV call rate < 0.99, 対照者群で HWE P < 1 x 10^-6\nImputationのQC：リファレンスパネルで HWE P < 1 x 10^-6 もしくは MAF < 0.01\nGWASデータセットとリファレンスパネルのアレル頻度差 > 0.16","en":"Genotyping QC: sample call rate < 0.98, SNV call rate < 0.99,\nHWE P < 1 x 10^-6 in the control samples\nImputation QC: HWE P < 1 x 10^-6 or MAF < 0.01 in the reference panel\nDifferences of MAF between the GWAS dataset and the reference panel > 0.16"}},{"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":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":7700000,"unit":null,"high":null,"suffix":{"ja":" SNVs (約)","en":" SNVs (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":"xlsx","label":{"en":"XLSX"}},{"code":"zip","label":{"en":"ZIP"}}]}