{"id":"hum0606","version":1,"url":"https://humandbs.dbcls.jp/research/hum0606/v1","datePublished":"2026-10-14","versions":[{"version":1,"datePublished":"2026-10-14"}],"title":{"ja":"固形腫瘍患者の組織検体を対象とした全ゲノム解析等の分析性能に影響を及ぼす因子に関する基礎検討","en":"A Basic Investigation of Factors Affecting the Analytical Performance of Whole-Genome Sequencing and Related Analyses Using Tissue Specimens from Patients with Solid Tumors"},"summary":{"aims":{"ja":"今後日本で整備される全ゲノム解析等の患者還元の実施体制において、これを担う医療機関で使用していく検体取扱いに関する標準作業手順書の作成のため、複数の検体処理法により準備された組織検体を用いて、全ゲノム解析等により得られる遺伝子変異および発現等のデータの比較検討を行い、分析性能に影響を及ぼす因子（検体品質など）に関する実証データを取得する。","en":"To support the development of standard operating procedures for specimen handling at medical institutions responsible for returning results to patients under the nationwide framework for whole-genome sequencing and related analyses that is expected to be established in Japan, tissue specimens prepared using multiple processing methods will be comparatively evaluated. Genetic alterations, gene expression profiles, and other data obtained through whole-genome sequencing and related analyses will be compared to generate empirical evidence on factors, such as specimen quality, that may affect analytical performance."},"methods":{"ja":"Whole Genome Sequencing、RNA Sequencing","en":"Whole Genome Sequencing, RNA Sequencing"},"targets":{"ja":"【WGS】\n・子宮体がん：1症例\n新鮮凍結：1検体、細胞診：1検体、末梢血：1検体\n・乳がん細胞株由来xenograft：1モデル\n新鮮凍結：1検体、細胞診：1検体、セルペレット：1検体\n【RNA-seq】\n・子宮体がん：1症例\n新鮮凍結：1検体、細胞診：1検体\n・乳がん細胞株由来xenograft：1モデル\n新鮮凍結：1検体、細胞診：1検体\n※末梢血以外の検体は全て腫瘍組織\n※WGSとRNA-seqの子宮体がん1症例は同一。乳がん細胞由来xenograft 1モデルは購入検体より作製、WGSとRNA-seqに同一モデル使用。","en":"WGS:\n- Endometrial cancer, 1 patient: 1 fresh-frozen tumor tissue, 1 cytology specimen, and 1 peripheral blood specimen as a matched normal control.\n- Breast cancer cell line-derived xenograft, 1 model: 1 fresh-frozen tumor tissue, 1 cytology specimen, and 1 cell pellet.\nRNA-seq:\n- Endometrial cancer, 1 patient: 1 fresh-frozen tumor tissue and 1 cytology specimen.\n- Breast cancer cell line-derived xenograft, 1 model: 1 fresh-frozen tumor tissue and 1 cytology specimen."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"子宮体癌：1症例\n（日本人）\n乳癌細胞株由来xenograft：1モデル\n（細胞株）","en":"Endometrial cancer: 1 case\n(Japanese)\nBreast cancer cell line-derived xenograft: 1 model\n(Cell line)"},"typeOfData":{"ja":"NGS\n（WGS、RNA-seq）","en":"NGS\n(WGS, RNA-seq)"}},"releaseNote":{"ja":"子宮体がん1症例および乳がん細胞株由来のxenograftモデル1例の末梢血もしくは腫瘍組織から抽出したDNA/RNAを対象としたwhole-genome sequencing解析データならびにRNA sequencing解析データをfastqファイルにて提供する。","en":"DNAs/RNAs extracted from peripheral blood cells　or tumor tissues obtained from patients with endometrial cancer or breast cancer cell line-derived xenograft were used for the whole-genome sequencing and RNA sequencing analyses. Fastq files are provided."},"dataProviders":[{"name":{"ja":"畑中 豊","en":"Yutaka Hatanaka"},"organization":{"name":{"ja":"北海道大学病院 先端診断技術開発センター","en":"Center for Development of Advanced Diagnostics, Hokkaido University Hospital"}}}],"researchProjects":[],"grants":[{"title":{"ja":"全ゲノム情報を患者に還元するためのゲノム・臨床情報基盤の研究","en":"Research on genome and clinical information infrastructure for returning whole genome information to patients"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21ck0106696"]}],"relatedPublications":[],"datasets":["JGAD001101","JGAD001102"],"controlledAccessUsers":[]}