{"id":"NHA000130","research":"hum0209","url":"https://humandbs.dbcls.jp/dataset/NHA000130","datePublished":"2019-12-13","dateModified":"2019-12-13","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":"DMETおよびダイレクトシークエンス法により決定した変異のGenotype頻度情報","en":"Genotype frequencies for variants detected by the DMET and direct sequencing"}}],"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":"関節リウマチ（ICD10：M06.9）：166症例","en":"RA (ICD10: M06.9): 166 cases"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"M069","label":{"ja":"関節リウマチ，詳細不明","en":"Rheumatoid arthritis, unspecified"}}],"name":{"ja":"関節リウマチ","en":"RA"}}]},{"key":"health-status","label":{"ja":"健康状態","en":"Health status"},"type":"vocabulary","terms":[{"code":"affected","label":{"ja":"罹患","en":"Affected"}}]},{"key":"subject-count","label":{"ja":"対象者数","en":"Subject count"},"type":"number","numbers":[{"value":166,"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":"MTX治療を受けたRA患者の末梢血から抽出したDNA","en":"DNA extracted from peripheral blood cells of RA patients treated with MTX"}},{"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":"dmet-plus-premier-pack-kit","label":{"en":"DMET Plus Premier Pack Kit"}},{"code":"bigdye-terminator-v3-1-cycle-sequencing-kit","label":{"en":"BigDye Terminator v3.1 Cycle Sequencing Kit"}},{"code":"bigdye-xterminator-purification-kit","label":{"en":"BigDye XTerminator Purification Kit"}}]},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"thermo-fisher-scientific-genechip-scanner-3000-7g","label":{"en":"Thermo Fisher Scientific GeneChip Scanner 3000 7G"}},{"code":"applied-biosystems-veriti-96-well-thermal-cycler","label":{"en":"Applied Biosystems Veriti 96-Well Thermal Cycler"}},{"code":"applied-biosystems-3730xl-dna-analyzer","label":{"en":"Applied Biosystems 3730xl DNA Analyzer"}}]},{"key":"filtering","label":{"ja":"QC・フィルタリング","en":"QC and filtering"},"type":"text","text":{"ja":"copy number variationにある変異、及び、性染色体上の変異は除く","en":"SNP loci with copy number variation and loci on the sex chromosome were excluded from the analyses."}},{"key":"analysis-methods","label":{"ja":"解析方法","en":"Analysis method"},"type":"text","text":{"ja":"Array：the Affymetrix DMET Console Software\nDirect sequencing：The 3730xl DNA Analyzer Software","en":"Array: the Affymetrix DMET Console Software\nDirect sequencing: The 3730xl DNA Analyzer Software"}},{"key":"variant-number","label":{"ja":"バリアント数","en":"Variant count"},"type":"number","numbers":[{"value":1916,"unit":null,"high":null,"suffix":{"ja":" variants","en":" variants"}}]},{"key":"processed-data-type","label":{"ja":"加工データの種類","en":"Processed data type"},"type":"vocabulary","terms":[{"code":"variant-calls","label":{"ja":"変異コール","en":"Variant calls"}}]},{"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":"zip","label":{"en":"ZIP"}}]}