{"id":"NHA000208","research":"hum0197","url":"https://humandbs.dbcls.jp/dataset/NHA000208","datePublished":"2026-03-10","dateModified":"2026-03-10","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":"もやもや病のGWAS統計量","en":"GWAS for Moyamoya disease"}}],"experiments":[{"label":"genome wide SNPs","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"もやもや病（ICD10：I67.5）：401症例\n対照：47,255名","en":"Moyamoya disease (ICD10: I67.5): 401 cases\ncontrol participants: 47,255"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"I675","label":{"ja":"もやもや病＜ウイリス動脈輪閉塞症＞","en":"Moyamoya disease"}}],"name":{"ja":"もやもや病","en":"Moyamoya disease"}}]},{"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":47656,"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":"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":"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":"infinium-asian-screening-array-kit","label":{"en":"Infinium Asian Screening Array Kit"}}]},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-infinium-asian-screening-array","label":{"en":"Illumina Infinium Asian Screening Array"}}]},{"key":"filtering","label":{"ja":"QC・フィルタリング","en":"QC and filtering"},"type":"text","text":{"ja":"Sample QC: genotyping call rate < 0.98 を除外。PCAを用いて日本人を祖先とする個人を対象とした。\nVariant QC: 以下の条件のバリアントを除外 (1) genotyping call rate < 99%、(2) minor allele count < 5、(3) Hardy-Weinberg平衡検定P値 < 1.0×10⁻¹⁰、(4) インピュテーションリファレンスパネルまたは東北メディカル・メガバンクのアレル頻度パネルと比較してアレル頻度の差が5%を超えるバリアント\nPost-imputation QC: Rsq < 0.7かつminor allele frequency (MAF) < 0.5%を除外","en":"Sample QC: We excluded individuals with low genotyping call rates (call rate < 98%). We included individuals of the estimated Japanese ancestry using PCA\nVariant QC: We excluded variants with (1) genotyping call rate < 99%, (2) minor allele count < 5, (3) P-value for Hardy-Weinberg equilibrium < 1.0 × 10−10, and (4) > 5% allele frequency difference compared with the imputation reference panel or the allele frequency panel of Tohoku Medical Megabank Project.\nPost-imputation QC: We excluded imputed variants with Rsq < 0.7 and minor allele frequency < 0.5%"}},{"key":"imputation","label":{"ja":"インピュテーション","en":"Imputation"},"type":"text","text":{"ja":"ハプロタイプフェージング: shapeit4\nインピュテーション: minimac4","en":"Haplotype phasing: shapeit4\nImputation: minimac4"}},{"key":"analysis-methods","label":{"ja":"解析方法","en":"Analysis method"},"type":"text","text":{"ja":"遺伝子型決定: GenomeStudio\nSAIGE","en":"Genotyping: GenomeStudio\nSAIGE"}},{"key":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":9071729,"unit":null,"high":null,"suffix":{"ja":" variants (参照：全ゲノム配列（WGS）データ n = 4,561 例からなる自家製の日本人特異的参照パネル)","en":" variants (reference: in-house Japanese-specific reference panel composed of n = 4,561 whole-genome sequence WGS data)"}}]},{"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"}}]},{"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":"docx","label":{"en":"DOCX"}},{"code":"zip","label":{"en":"ZIP"}}]}