{"id":"JGAD000965","research":"hum0527","url":"https://humandbs.dbcls.jp/dataset/JGAD000965","datePublished":"2025-08-06","dateModified":"2025-10-24","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":"NGS（Exome）","en":"NGS (Exome)"}}],"experiments":[{"label":"WES","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"子宮頸部・膣部の濾胞性リンパ腫（ICD10：C82.9）：1症例\n子宮頸部腫瘤凍結検体（腫瘍組織）：1検体","en":"FCL of the LFGT (ICD10: C82.9): 1 case\na frozen tumor tissue obtained from a surgically resected uterine cervical tumor: 1 sample"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"C829","label":{"ja":"ろ＜濾＞胞性リンパ腫，詳細不明","en":"Follicular lymphoma, unspecified"}}],"name":{"ja":"子宮頸部・膣部の濾胞性リンパ腫","en":"FCL of the LFGT"}}]},{"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":1,"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":"子宮頸部腫瘤（腫瘍組織）から抽出したDNA","en":"DNAs extracted from a frozen tumor tissue"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"cervix","label":{"ja":"子宮頸部","en":"Cervix"}}]},{"key":"is-tumor","label":{"ja":"腫瘍 / 非腫瘍","en":"Tumor / normal"},"type":"vocabulary","terms":[{"code":"tumor","label":{"ja":"腫瘍","en":"Tumor"}}]},{"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":"wes","label":{"en":"WES"}}]},{"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":"sureselect-human-all-exon-v6","label":{"en":"SureSelect Human All Exon V6"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"type":"text","text":{"ja":"超音波断片化","en":"Ultrasonic fragmentation"}},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-novaseq-x-plus","label":{"en":"Illumina NovaSeq X Plus"}}]},{"key":"read-type","label":{"ja":"リードタイプ","en":"Read type"},"type":"vocabulary","terms":[{"code":"paired-end","label":{"ja":"ペアエンド","en":"Paired-end"}}]},{"key":"read-length","label":{"ja":"リード長","en":"Read length"},"type":"number","numbers":[{"value":150,"unit":"bp","high":null}]},{"key":"reference-sequence","label":{"ja":"参照ゲノム","en":"Reference genome"},"type":"vocabulary","terms":[{"code":"grch38","label":{"en":"GRCh38"}}]},{"key":"mapping","label":{"ja":"マッピング","en":"Mapping"},"type":"text","text":{"ja":"BWA-MEM（バージョン 0.7.17-r1188）","en":"BWA-MEM (v0.7.17-r1188)"}},{"key":"mapping-quality","label":{"ja":"マッピング品質","en":"Mapping quality"},"type":"text","text":{"ja":"マッピング率 99.97%","en":"Mapping rate 99.97%"}},{"key":"filtering","label":{"ja":"QC・フィルタリング","en":"QC and filtering"},"type":"text","text":{"ja":"FastQCによるシーケンス品質評価、Trimmomaticによる低品質リードおよびアダプターの除去、Picardによる重複リード除去、GATK（Mutect2）およびFilterMutectCallsによる変異フィルタリングを実施した。","en":"Quality control was performed using FastQC, trimming with Trimmomatic, duplicate removal with Picard, and variant filtering with GATK FilterMutectCalls."}},{"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":3668083478,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}},{"code":"vcf","label":{"en":"VCF"}}]}