{"id":"hum0038","version":1,"url":"https://humandbs.dbcls.jp/research/hum0038/v1","datePublished":"2015-11-18","versions":[{"version":1,"datePublished":"2015-11-18"}],"title":{"ja":"家族性致死性不整脈の病因解明","en":"Genetic analysis in an inherited cardiac arrhythmia"},"summary":{"aims":{"ja":"家族性致死性不整脈の原因遺伝子を明らかにし、病態を明らかにすること","en":"The purpose of this study is to identify a causative gene in an inherited cardiac arrhythmia"},"methods":{"ja":"HiSeq 2000を用いたエクソーム解析","en":"Exome sequence analysis (HiSeq 2000)"},"targets":{"ja":"家族性致死性不整脈11症例","en":"Patients with an inherited cardiac arrhythmia"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"家族性致死性不整脈：11症例\n（日本人）","en":"11 Patients with an inherited cardiac arrhythmia\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"家族性致死性不整脈11症例の末梢血から抽出したDNAを用い、Exome解析を行った結果をfastq形式にて提供する。\nSureSelect Human All Exon 50 Mb KitによりExon領域にしぼり、HiSeq 2000にて平均長100 bpの断片を解読した（Paired-end）。","en":"gDNAs extracted from peripheral blood cells obtained from 11 patients with an inherited cardiac arrhythmia were used for the whole exome sequencing (fastq files). DNA fragments containing whole coding exons were concentrated using SureSelect Human All Exon 50 Mb Kit (Agilent) and multiplex sequence was performed with the Illumina HiSeq 2000 sequencer (100 bp, Paired-end)."},"dataProviders":[{"name":{"ja":"蒔田 直昌","en":"Naomasa Makita"},"organization":{"name":{"ja":"長崎大学大学院 医歯薬学総合研究科 分子生理学分野","en":"Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences"}}}],"researchProjects":[],"grants":[{"title":{"ja":"心臓イオンチャネルの遺伝子異常と機能破綻の分子基盤","en":"Molecular basis of cardiac channelopathies"},"agency":{"ja":"科学研究費助成事業 新学術領域研究","en":"Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["22136007"]}],"relatedPublications":[{"title":"Successful control of life-threatening polymorphic ventricular tachycardia by radiofrequency catheter ablation in an infant.","doi":"https://doi.org/10.1007/s00380-013-0390-6","datasets":["JGAD000041"]},{"title":"Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.","doi":"https://doi.org/10.1038/ng.2712","datasets":["JGAD000041"]}],"datasets":["JGAD000041"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"湯原 悟志","en":"Satoshi Yuhara"},"affiliation":{"ja":"研究開発本部　試験開発部　バイオインフォマティクス課, 株式会社エスアールエル","en":"SRL inc./ H.U. Group Research Institute G.K."},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"希少疾患クリニカルレポーティングシステムの検証","en":"Validation of Rare Disease Clinical Reporting System"},"periodStart":"2024-07-01","periodEnd":"2026-07-01","datasets":["JGAD000041"]}]}