{"id":"hum0165","version":1,"url":"https://humandbs.dbcls.jp/research/hum0165/v1","datePublished":"2019-05-07","versions":[{"version":1,"datePublished":"2019-05-07"}],"title":{"ja":"家族性骨髄異形成症候群の遺伝子解析研究","en":"Genetic analysis of familial myelodysplastic syndromes"},"summary":{"aims":{"ja":"家族性骨髄異形成症候群の原因遺伝子の探索","en":"Investigation of a causal gene of familial myelodysplastic syndromes (MDS)"},"methods":{"ja":"家族性骨髄異形成症候群の1家系に関して、HiSeq 2500による全エクソン解析を行い、原因となる遺伝子変異の同定を試みた。","en":"Whole exome sequencing was performed in two MDS patients in the same pedigree."},"targets":{"ja":"家族性骨髄異形成症候群患者2症例","en":"Two patients of myelodysplastic syndromes"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"家族性骨髄異形成症候群：2症例（1家系）\n（日本人）","en":"2 patients of familial myelodysplastic syndromes\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"家族性骨髄異形成症候群1家系2症例の末梢血および口腔内粘膜から抽出したDNAを使用したExome解析の結果をbamファイルにて提供する。\nIllumina HiSeq 2500を用いて平均長125塩基のDNA断片を解読した（Paired-end）。","en":"DNAs extracted from peripheral blood cells and buccal mucosae from two familial MDS patients were used for the whole exome sequencing (bam files). Sequencing was performed with Illumina HiSeq 2500 (125 bp, Paired-end)."},"dataProviders":[{"name":{"ja":"古屋 淳史","en":"Junji Koya"},"organization":{"name":{"ja":"東京大学医学部附属病院 血液・腫瘍内科","en":"The Universiy of Tokyo Hospital, Department of Hematology and Oncology"}}}],"researchProjects":[{"name":{"ja":"家族性骨髄異形成症候群の原因遺伝子の探索および機能解析","en":"Investigation of a causal gene of familial myelodysplastic syndromes and its molecular mechanism"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"家族性骨髄異形成症候群の原因遺伝子の探索および機能解析","en":"Investigation of a causal gene of familial myelodysplastic syndromes and its molecular mechanism"},"agency":{"ja":"科学研究費助成事業 若手研究（B）","en":"KAKENHI Grant-in-Aid for Young Scientists (B)"},"grantIds":["17K16181"]},{"title":{"ja":"家族性骨髄異形成症候群の原因遺伝子およびその分子機構の解明","en":"Investigation of a causal gene and a molecular mechanism of familial myelodysplastic syndromes"},"agency":{"ja":"科学研究費助成事業 特別研究員奨励費","en":"KAKENHI Grant-in-Aid for JSPS Research Fellows"},"grantIds":["15J03679"]}],"relatedPublications":[{"title":"A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination.","doi":"https://doi.org/10.1038/s41375-019-0385-0","datasets":["JGAD000240"]}],"datasets":["JGAD000240"],"controlledAccessUsers":[]}