{"id":"hum0389","version":1,"url":"https://humandbs.dbcls.jp/research/hum0389/v1","datePublished":"2023-04-04","versions":[{"version":1,"datePublished":"2023-04-04"}],"title":{"ja":"胎児発育異常の遺伝子・ゲノム解析","en":"Genetic analysis of fetal developmental abnormalities"},"summary":{"aims":{"ja":"児と付属物（胎盤）の発生・発育異常を呈する症例において、関連が疑われる遺伝子・ゲノム領域を解析し、発症に関与する因子の解明と適切な周産期管理法の開発を目指す","en":"To elucidate genetic etiologies of abnormal development and growth observed in fetuses and placentas through genomic and epigenomic analyses, and to apply knowledge from new discoveries to improve perinatal management."},"methods":{"ja":"キャプチャーメチルシーケンス法（アジレント社SureSelect XT Methyl-Seq法）","en":"Capture methyl-seq (Agilent SureSelect XT Methyl-Seq)"},"targets":{"ja":"健常女性4名の末梢血由来ゲノムDNAに対して取得したキャプチャーメチルシーケンスデータ","en":"Capture methyl-seq data for four genomic DNA samples from peripheral blood cells of healthy women"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"メチル化","en":"Methylation profiling"},"targets":{"ja":"健常女性：4名\n（日本人）","en":"4 healthy women\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Capture Methyl-seq）","en":"NGS\n(Capture Methyl-seq)"}},"releaseNote":{"ja":"健常女性4名の末梢血から抽出したDNAを用いたキャプチャーメチルシーケンス解析データをfastqファイルにて提供する。","en":"DNAs extracted from peripheral blood cells of 4 healthy women were used for the capture methyl-seq analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"中林 一彦","en":"Kazuhiko Nakabayashi"},"organization":{"name":{"ja":"国立成育医療研究センター 周産期病態研究部","en":"Division of Developmental Genomics, Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development"}}}],"researchProjects":[{"name":{"ja":"精緻エピゲノム解析技術開発とIRUD未解明症例への応用","en":"Diagnosis of rare diseases and elucidation of molecular pathological states by using epigenetic information"},"url":{"ja":[{"url":"https://www.raddarj.org/registry/%e7%b2%be%e7%b7%bb%e3%82%a8%e3%83%94%e3%82%b2%e3%83%8e%e3%83%a0%e8%a7%a3%e6%9e%90%e6%8a%80%e8%a1%93%e9%96%8b%e7%99%ba%e3%81%a8irud%e6%9c%aa%e8%a7%a3%e6%98%8e%e7%97%87%e4%be%8b%e3%81%b8%e3%81%ae/","text":"https://www.raddarj.org/registry/精緻エピゲノム解析技術開発とirud未解明症例への/"}],"en":null}}],"grants":[{"title":{"ja":"精緻エピゲノム解析技術開発とIRUD未解明症例への応用","en":"Diagnosis of rare diseases and elucidation of molecular pathological states by using epigenetic information"},"agency":{"ja":"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":["JP22ek0109489"]}],"relatedPublications":[{"title":"A capture methyl-seq protocol with improved efficiency and cost-effectiveness using pre-pooling and enzymatic conversion","doi":"https://doi.org/10.21203/rs.3.rs-2173809/v1","datasets":["JGAD000734"]}],"datasets":["JGAD000734"],"controlledAccessUsers":[]}