{"id":"hum0329","version":1,"url":"https://humandbs.dbcls.jp/research/hum0329/v1","datePublished":"2022-06-17","versions":[{"version":1,"datePublished":"2022-06-17"}],"title":{"ja":"未診断疾患の網羅的遺伝子解析による診断システムの構築","en":"Next-generation sequencing-based comprehensive genetic analysis of undiagnosed disease"},"summary":{"aims":{"ja":"次世代シーケンサーを用いた網羅的遺伝子解析を行い「未診断疾患」の遺伝子診断を行うことを目的とする。","en":"To perform a comprehensive genetic analysis using next-generation sequence technology to make genetic diagnoses of \"undiagnosed diseases\"."},"methods":{"ja":"Whole Exome Sequencing解析","en":"Whole exome sequencing analysis"},"targets":{"ja":"未診断疾患患者およびその両親（一部trioでない家系を含む）","en":"Patients with undiagnosed diseases and their parents"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"未診断疾患の患者およびその両親（一部trioでない家系を含む）：177家系（522検体）\n（日本人）","en":"Patients with undiagnosed diseases and their parents: 177 families (522 samples)\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"未診断疾患患者およびその両親のトリオ177家系（一部トリオでない）の末梢血もしくは口腔粘膜から抽出したDNAを用いたwhole exome sequencing解析データをfastqファイルにて提供する。","en":"DNAs extracted from peripheral blood cells or oral mucosa obtained from patients with undiagnosed diseases and their parents (177 families) were used for the whole exome sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"村松 秀城","en":"Hideki Muramatsu"},"organization":{"name":{"ja":"名古屋大学大学院医学系研究科 小児科学","en":"Department of Pediatrics, Nagoya University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"原因不明遺伝子関連疾患の全国横断的症例収集・バンキングと網羅的解析","en":"Nationwide cross-sectional case collection, banking, and comprehensive analysis of undiagnosed genetic disorders"},"agency":{"ja":"国立研究開発法人日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP16ek0109166"]},{"title":{"ja":"未診断疾患に対する診断プログラムの開発に関する研究","en":"Research on the development of diagnostic programs for undiagnosed diseases"},"agency":{"ja":"国立研究開発法人日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP17ek0109151"]},{"title":{"ja":"未診断疾患イニシアチブ(Initiative on Rare and Undiagnosed Diseases(IRUD)):希少未診断疾患に対する診断プログラムの開発に関する研究","en":"Initiative on Rare and Undiagnosed Diseases(IRUD): Research on the development of diagnostic programs for rare undiagnosed diseases"},"agency":{"ja":"国立研究開発法人日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20ek0109301"]}],"relatedPublications":[{"title":"Whole-exome analysis of 177 pediatric patients with undiagnosed diseases","doi":"https://doi.org/10.1038/s41598-022-14161-6","datasets":["JGAD000641"]}],"datasets":["JGAD000641"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"西村 邦裕","en":"Kunihiro Nishimura"},"affiliation":{"ja":"リサーチ, 株式会社テンクー","en":"Research, Xcoo, Inc."},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"公的データベースを利用した難病・希少疾患の全エクソーム解析自動診断アルゴリズムの開発","en":"Development of an automated whole exome analysis diagnostic algorithm for intractable and rare diseases using public databases"},"periodStart":"2023-09-08","periodEnd":"2027-03-31","datasets":["JGAD000641"]},{"principalInvestigator":{"ja":"湯原 悟志","en":"Satoshi Yuhara"},"affiliation":{"ja":"研究開発本部　試験開発部　バイオインフォマティクス課, 株式会社エスアールエル","en":"SRL inc./ H.U. Group Research Institute G.K."},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"希少疾患クリニカルレポーティングシステムの検証","en":"Validation of Rare Disease Clinical Reporting System"},"periodStart":"2024-07-01","periodEnd":"2026-07-01","datasets":["JGAD000641"]},{"principalInvestigator":{"ja":"藤井 誠志","en":"Satoshi Fujii"},"affiliation":{"ja":"分子病理学, 横浜市立大学","en":"Molecular pathology, Yokohama City University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"多臓器に跨る扁平上皮癌におけるPD L1 免疫組織化学染色の精度管理と染色態度の生物学的意義の解明に関する観察研究","en":"A observational study to control the accuracy of PD-L1 immunohistochemistry and to elucidate the biological significance of the staining affinity in squamous cell carcinoma across multiple organs"},"periodStart":"2025-10-07","periodEnd":"2026-07-23","datasets":["JGAD000641"]}]}