{"id":"JGAD001017","research":"hum0541","url":"https://humandbs.dbcls.jp/dataset/JGAD001017","datePublished":"2026-06-03","dateModified":"2026-06-03","values":[{"key":"access-criteria","label":{"ja":"アクセス制限","en":"Access criteria"},"type":"vocabulary","terms":[{"code":"controlled-access-type-1","label":{"ja":"制限公開（Type I）","en":"Controlled-access (Type I)"}}]},{"key":"type-of-data","label":{"ja":"データの種類","en":"Type of data"},"type":"text","text":{"ja":"QTL（量的形質遺伝子座）表現型マトリックス","en":"Quantitative Trait Loci Phenotype Matrix"}}],"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":"バイオバンク・ジャパン（BBJ）第一コホート：176,894名","en":"BioBank Japan (BBJ) 1st cohort: 176,894 individuals"}},{"key":"subject-count","label":{"ja":"対象者数","en":"Subject count"},"type":"number","numbers":[{"value":176894,"unit":null,"high":null}]},{"key":"cohort","label":{"ja":"コホート","en":"Cohort"},"type":"vocabulary","terms":[{"code":"biobank-japan","label":{"en":"BioBank Japan"}}]},{"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":"DNA 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-humanomniexpressexome","label":{"en":"Illumina HumanOmniExpressExome"}},{"code":"illumina-humanomniexpress","label":{"en":"Illumina HumanOmniExpress"}},{"code":"illumina-humanexome","label":{"en":"Illumina HumanExome"}}]},{"key":"filtering","label":{"ja":"QC・フィルタリング","en":"QC and filtering"},"type":"text","text":{"ja":"Sample QC：以下のサンプルを除外\n（1） Sample call rate < 0.98\n（2） 性別の不一致\n（3） 非東アジア系\n（4） 参照パネルと同じサンプル\nVariant QC：以下のバリアントを除外\n（1） variant call rate < 0.99\n（2） number of heterozygotes < 5\n（3） Hardy-Weinberg equilibrium（P < 1 × 10−6）\n（4） palindromic variants","en":"Sample QC: We excluded samples with\n(1) Sample call rate < 0.98\n(2) Samples with sex mismatches\n(3) non-East Asian ancestry\n(4) Samples overlapping with those in the reference panels\nVariant QC: We excluded variants with\n(1) variant call rate < 0.99\n(2) number of heterozygotes < 5\n(3) Hardy-Weinberg equilibrium (P < 1 × 10-6)\n(4) palindromic variants"}},{"key":"imputation","label":{"ja":"インピュテーション","en":"Imputation"},"type":"text","text":{"ja":"haplotype phasing: SHAPEIT2(v.2.837)\nimputation: Minimac4(v.1.0.0)","en":"haplotype phasing: SHAPEIT2 (v.2.837)\nimputation: Minimac4 (v.1.0.0)"}},{"key":"analysis-methods","label":{"ja":"解析方法","en":"Analysis method"},"type":"text","text":{"ja":"genotyping: GenomeStudio(v2.0.5)","en":"genotyping: GenomeStudio (v2.0.5)"}},{"key":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":15907072,"unit":null,"high":null,"suffix":{"ja":" SNVs","en":" SNVs"}}]},{"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)"}}]}]}],"dataVolume":42257935,"fileFormats":[{"code":"txt","label":{"en":"TXT"}},{"code":"gzip","label":{"en":"GZIP"}}]}