{"id":"hum0324","version":1,"url":"https://humandbs.dbcls.jp/research/hum0324/v1","datePublished":"2022-04-11","versions":[{"version":1,"datePublished":"2022-04-11"}],"title":{"ja":"脳血管障害及び神経筋難病の遺伝子解析研究","en":"Genetic analysis of cerebrovascular diseases and neuromuscular disorders"},"summary":{"aims":{"ja":"神経筋疾患についてゲノム解析を行い（一部の症例に対して網羅的な解析を行う）、診断の向上・病態の解明・新しい治療法の確立を行うことを目標とする。","en":"To perform genomic analysis of neuromuscular diseases in order to improve diagnosis, elucidate pathogenesis, and establish new therapeutic strategies. In particular, we aim to elucidate the pathogenesis of the disease by performing comprehensive analysis using DNA sequencers."},"methods":{"ja":"事前に同意が得られた神経筋疾患罹患者および健常者の末梢血血漿からcell-free DNAを抽出し、バイサルファイトシークエンスによるメチル化解析を行った。","en":"Cell-free DNA was extracted from plasma and analyzed by whole genome bisulfite sequencing technology in NMOSD patients and healthy controls who had given prior consent."},"targets":{"ja":"AQP4抗体陽性の視神経脊髄炎（Neuromyelitis Optica Spectrum Disorders：NMOSD）および対照健常者","en":"neuromyelitis optica (NMOSD) positive for AQP4 antibody and 8 healthy controls"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"メチル化","en":"Methylation profiling"},"targets":{"ja":"AQP4抗体陽性の視神経脊髄炎（NMOSD）：10症例\n健常者（非発症血縁者）：8名\n（日本人）","en":"10 neuromyelitis optica (NMOSD) positive for AQP4 antibody\n8 healthy controls\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGBS）","en":"NGS\n(WGBS)"}},"releaseNote":{"ja":"AQP4抗体陽性の視神経脊髄炎（NMOSD）症例および対照健常者の血漿から抽出したcell-free DNAを用いたWGBS解析の結果をfastqファイルにて提供する。Accel-NGS™ Methyl-Seq DNA library Kit および Methyl-Seq Set A Indexing Kit（Swift Biosciences™）によるライブラリ作製後、NovaSeq 6000（Illumina）によりシークエンシングを行った。","en":"Cell-free DNAs extracted from plasma obtained from 10 neuromyelitis optica (NMOSD) positive for AQP4 antibody and 8 healthy controls were used for whole genome bisulfite sequencing analysis (fastq format files). Libraries were prepared using Accel-NGS™ Methyl-Seq DNA library Kit and Methyl-Seq Set A Indexing Kit (Swift Biosciences™) and sequenced using NovaSeq 6000 (Illumina)."},"dataProviders":[{"name":{"ja":"奥野 龍禎","en":"Tatsusada Okuno"},"organization":{"name":{"ja":"大阪大学医学部附属病院 神経内科学","en":"Department of Neurology, Osaka University Graduate School of Medicine"}}}],"researchProjects":[{"name":{"ja":"全身性強皮症患者の遺伝子発現解析","en":"Gene expression analysis of systemic sclerosis patients."},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"視神経脊髄炎におけるタイプ1インターフェロンシグネーチャーの解明","en":"Elucidation of the type1 interferon signature in Neuromyelitis optica"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["20K07759"]}],"relatedPublications":[{"title":"Cell-Free DNA Derived From Neutrophils Triggers Type 1 Interferon Signature in Neuromyelitis Optica Spectrum Disorder","doi":"https://doi.org/10.1212/NXI.0000000000001149","datasets":["JGAD000634"]}],"datasets":["JGAD000634"],"controlledAccessUsers":[]}