{"id":"hum0010","version":1,"url":"https://humandbs.dbcls.jp/research/hum0010/v1","datePublished":"2015-06-23","versions":[{"version":1,"datePublished":"2015-06-23"}],"title":{"ja":"脾類上皮嚢腫関連遺伝子の探索","en":"Research for candidate genes of splenic epidermoid cyst."},"summary":{"aims":{"ja":"脾類上皮嚢腫の発症リスクに関与する遺伝子の同定","en":"Identification of candidate genes for splenic epidermoid cyst."},"methods":{"ja":"Illumina HiSeq 2000を使用したExome解析","en":"Whole exome sequence analysis using Illumina HiSeq 2000."},"targets":{"ja":"脾類上皮嚢腫8症例","en":"Patients of splenic epidermoid cyst."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"脾類上皮嚢腫：8症例\n（日本人）","en":"8 Splenic epidermoid cysts\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"このバージョンでは、脾類上皮嚢腫8症例の末梢血から抽出したDNAを用いたExome解析の結果をFastqファイルにて提供する。SureSelect Human All Exon 50 Mb Kit（Agilent社）を用いてExon領域にしぼり、Illumina 社 HiSeq 2000にて平均長150塩基のDNA断片を解読した（Paired-end）。","en":"gDNAs extracted from peripheral blood cells of 8 patients of splenic epidermoid cyst were used for Exome sequencing analysis (fastq format files). Exons were captured using the SureSelect Human All Exon 50 Mb Kit and multiplex sequence was performed with the Illumina HiSeq 2000 sequencer (150 bp, Paired-end)."},"dataProviders":[{"name":{"ja":"松藤 凡","en":"Matsufuji Hiroshi"},"organization":{"name":{"ja":"鹿児島大学大学院 医歯学総合研究科 発生発達成育学講座 小児外科学分野","en":"Kagoshima University Graduate School of Medical and Dental Sciences"}}}],"researchProjects":[],"grants":[],"relatedPublications":[{"title":"Genome-wide linkage and exome analyses identify variants of HMCN1 for splenic epidermoid cyst.","doi":"https://doi.org/10.1186/s12881-014-0115-4","datasets":["JGAD000008"]}],"datasets":["JGAD000008"],"controlledAccessUsers":[]}