{"id":"hum0271","version":1,"url":"https://humandbs.dbcls.jp/research/hum0271/v1","datePublished":"2021-05-11","versions":[{"version":1,"datePublished":"2021-05-11"}],"title":{"ja":"ハプロ不全により発症する常染色体優性遺伝性疾患における表現型発現の個体差に関する包括的ゲノム解析研究","en":"Comprehensive genome analysis related to individual differences in phenotypic expression in autosomal dominant diseases caused by haploinsufficiency"},"summary":{"aims":{"ja":"神経線維腫症1型の表現型の発現とその重症度に関与する分子遺伝学的要因の解析","en":"Analyze the genetic factors involved in the expression and severity of the neurofibromatosis type 1 phenotype"},"methods":{"ja":"患者由来末梢血を用いて、NF1遺伝子の全ゲノム領域DNA配列決定、またNF1のmRNAバリアント解析を行い、疾患重症度に関与している変異、多型を抽出する。","en":"Using patient-derived peripheral blood, whole regional DNA sequencing and mRNA variant analysis of NF1 are performed to extract mutations and polymorphisms involved in disease severity."},"targets":{"ja":"神経線維腫症1型症例","en":"Patients with neurofibromatosis type 1"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"神経線維腫症1型：20症例\n（日本人）","en":"20 patients with neurofibromatosis type 1\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture、Target RNA-seq）","en":"NGS\n(Target Capture, Target RNA-seq)"}},"releaseNote":{"ja":"神経線維腫症1型20症例の末梢血から抽出したDNAとmRNAを用いたNF1遺伝子領域のTarget Capture Resequencing（Long PCR based）ならびにmRNAバリアント解析（Long PCR based RNA-seq）結果をfastqファイルにて提供する。","en":"DNAs and mRNAs extracted from peripheral blood cells of neurofibromatosis type 1 patients were used for the target capture sequencing and target RNA sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"新井田 要","en":"Yo Niida"},"organization":{"name":{"ja":"金沢医科大学 総合医学研究所 先端医療研究領域 ゲノム疾患研究分野","en":"Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"TSC遺伝子のmRNAプロセッシングの個体差が結節性硬化症の重症度に与える影響の解明","en":"Analysis of the effect of individual differences in TSC gene mRNA processing on the severity of tuberous sclerosis complex"},"agency":{"ja":"公益信託康本徳守記念結節性硬化症関連神経難病研究基金","en":"The Tokumori Yasumoto Memorial Trust for Researches on Tuberous Sclerosis Complex and Related Rare Neurological Diseases"},"grantIds":["2019"]}],"relatedPublications":[{"title":"Optimization and Validation of Multimodular, Long-Range PCR-Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex","doi":"https://doi.org/10.1016/j.jmoldx.2020.12.009","datasets":["JGAD000394"]},{"title":"Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study","doi":"https://doi.org/10.3390/cimb43020057","datasets":["JGAD000394"]}],"datasets":["JGAD000394"],"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":["JGAD000394"]}]}