{"id":"hum0375","version":1,"url":"https://humandbs.dbcls.jp/research/hum0375/v1","datePublished":"2025-05-20","versions":[{"version":1,"datePublished":"2025-05-20"}],"title":{"ja":"超高速DNAシーケンサーを用いた疾患原因ゲノム領域の同定と情報解析法の確立、および参照配列データの作成に関する研究","en":"identification of disease responsible genome region and establishment of genome information technology by next generation DNA sequencer"},"summary":{"aims":{"ja":"結節性硬化症症例間の表現型の違いに関与する遺伝子を明らかにすること","en":"To clarify the responsible genes for phenotypes of tuberous sclerosis."},"methods":{"ja":"Whole exome sequencing解析","en":"Whole exome sequencing analysis"},"targets":{"ja":"結節性硬化症","en":"The patients with tuberous sclerosis complex (TSC)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"結節性硬化症：163症例\n（日本人）","en":"tuberous sclerosis complex: 163 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"結節性硬化症163症例の末梢血から抽出したDNAを用いたwhole exome sequencing解析データをGenotype Callingして得られた各症例のvariant情報をvcfファイルにて提供する。","en":"DNAs extracted from peripheral blood cells of 163 tuberous sclerosis complex patients were used for the whole exome sequencing analysis. Variant call data from the WES analysis are provided (vcf)."},"dataProviders":[{"name":{"ja":"金田 眞理","en":"Mari Wataya-Kaneda"},"organization":{"name":{"ja":"大阪大学 大学院医学系研究科 保健学専攻 神経皮膚症候群の治療法の開発と病態解析学 寄附講座","en":"Department of Neurocutaneous Medicine, Division of Health Science, Graduate School of Medicine, Osaka University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"血液脳関門を介さない皮膚から脳への新規薬剤輸送機構の解明","en":"Elucidation of a novel drug delivery mechanism from the skin to the brain bypassing the blood-brain barrier"},"agency":{"ja":"科学研究費助成事業 挑戦的研究（開拓）","en":"KAKENHI Grant-in-Aid for Challenging Research (Pioneering)"},"grantIds":["22K18392"]}],"relatedPublications":[{"title":"Genotype-phenotype correlation for skin and neuropsychiatric features in tuberous sclerosis complex","doi":"https://doi.org/10.1093/bjd/ljaf038","datasets":["JGAD000821"]}],"datasets":["JGAD000821"],"controlledAccessUsers":[]}