{"id":"DRA017996","research":"hum0439","url":"https://humandbs.dbcls.jp/dataset/DRA017996","datePublished":"2024-03-01","dateModified":"2024-02-20","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":"NGS（Target Capture）","en":"NGS (Target Capture)"}}],"experiments":[{"label":"Targeted DNA sequencing","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"FH（ICD10：E780）：5症例\n対照者：1名","en":"FH (ICD10: E780): 5 cases\n1 Control"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"E780","label":{"ja":"純型高コレステロール血症","en":"Pure hypercholesterolaemia"}}],"name":{"ja":"FH","en":"FH"}}]},{"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":6,"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":"targeted-dna-sequencing","label":{"en":"Targeted DNA sequencing"}}]},{"key":"targets","label":{"ja":"測定対象","en":"Target"},"type":"text","text":{"ja":"LDLR（Low-Density Lipoprotein Receptor）：Chr19: 11089463-11133820\nPCSK9（Proprotein Convertase Subtilisin/Kexin Type 9）：Chr1: 55039548-55064852\n※CRISPR-Cas9により全ゲノムからLDLRとPCSK9遺伝子を特定切断後、シーケンスアダプターを加えターゲットシーケンシングを実施している。ライブラリ作成時、バックグラウンドDNAを除去していないため、他領域のリードも少量含まれている。","en":"LDLR (Low-Density Lipoprotein Receptor): Chr19: 11089463-11133820\nPCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9): Chr1: 55039548-55064852\n* LDLR and PCSK9 genes were selectively excised from the entire genome using CRISPR-Cas9, followed by ligating sequencing adapters for targeted sequencing. The background DNA remains unremoved, which results in a small amount of reads from random regions."}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"cas9-sequencing-kit","label":{"en":"Cas9 Sequencing Kit"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"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":"oxford-nanopore-technologies-minion","label":{"en":"Oxford Nanopore Technologies MinION"}}]},{"key":"read-type","label":{"ja":"リードタイプ","en":"Read type"},"type":"vocabulary","terms":[{"code":"single-end","label":{"ja":"シングルエンド","en":"Single-end"}}]},{"key":"read-length","label":{"ja":"リード長","en":"Read length"},"type":"number","numbers":[{"value":46200,"unit":"bp","high":null,"prefix":{"ja":"LDLRの位置でリード長: ","en":"Read length at the LDLR locus: "},"suffix":{"ja":" (最大)","en":" (Maximum)"}},{"value":26500,"unit":"bp","high":null,"prefix":{"ja":"PCSK9の位置でリード長: ","en":"Read length at the PCSK9 locus: "},"suffix":{"ja":" (最大)","en":" (Maximum)"}}]},{"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":2658459835,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}}]}