{"id":"hum0008","version":1,"url":"https://humandbs.dbcls.jp/research/hum0008/v1","datePublished":"2018-01-29","versions":[{"version":1,"datePublished":"2018-01-29"}],"title":{"ja":"ヒルシュスプルング病およびヒルシュスプルング類縁疾患の遺伝要因および発症機構解明に関する研究","en":"Research for genetic causes and mechanisms of Hirschsprung's"},"summary":{"aims":{"ja":"ヒルシュスプルング病の遺伝要因および発症機構の解明","en":"Research for genetic causes and mechanisms of Hirschsprung's diseases."},"methods":{"ja":"Illumina HiSeq 2000を使用したExome解析","en":"Perform whole exome sequencing using genome DNA from patients with Hirschsprung's diseases or their families and explore candidate genes."},"targets":{"ja":"ヒルシュスプルング病5症例、およびその家族6例","en":"Patients with Hirschsprung's diseases and their families"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"ヒルシュスプルング：5症例\n家族：6例\n（日本人）","en":"5 Patients with Hirschsprung's diseases\nand 6 their families\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"このバージョンでは、ヒルシュスプルング病5症例、患者家族6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100塩基のDNA断片を解読した（Paired-end）。","en":"gDNAs extracted from peripheral blood cells of 5 patients with Hirschsprung's diseases and their 6 families 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 (100 bp, Paired-end)."},"dataProviders":[{"name":{"ja":"松藤 凡","en":"Hiroshi Matsufuji"},"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":"Graduate School of Medical and Dental Sciences, Kagoshima University, Graduate School of Medicine"}}}],"researchProjects":[],"grants":[],"relatedPublications":[{"title":"Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease.","doi":"https://doi.org/10.1007/s00383-017-4134-z","datasets":["JGAD000007"]}],"datasets":["JGAD000007"],"controlledAccessUsers":[]}