{"id":"hum0020","version":1,"url":"https://humandbs.dbcls.jp/research/hum0020/v1","datePublished":"2015-01-08","versions":[{"version":1,"datePublished":"2015-01-08"}],"title":{"ja":"筋萎縮性側索硬化症の遺伝子解析研究","en":"Genetic Analysis in Amyotrophic Lateral Sclerosis"},"summary":{"aims":{"ja":"筋萎縮性側索硬化症の遺伝因子の解明","en":"To identify causative genes in amyotrophic lateral sclerosis (ALS)."},"methods":{"ja":"Illumina HiSeq 2000を使用したExome解析","en":"Whole exome sequence analysis using Illumina HiSeq 2000."},"targets":{"ja":"家族性筋萎縮性側索硬化症患者11症例","en":"11 familial ALS patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"家族性ALS：11症例\n（日本人）","en":"11 ALSs\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"このバージョンでは、家族性筋萎縮性側索硬化症患者11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 11 familial ALS patients 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":"田中 章景","en":"Fumiaki Tanaka"},"organization":{"name":{"ja":"横浜市立大学大学院 医学研究科 神経内科学・脳卒中医学","en":"Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"パーソナルゲノム解析に基づくALSの疾患関連遺伝子探索と病態解明","en":"Elucidation of causative genes and pathogenesis of ALS through personal genome analysis"},"agency":{"ja":"科学研究費助成事業 新学術領域研究","en":"KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["22129005"]}],"relatedPublications":[],"datasets":["JGAD000013"],"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":["JGAD000013"]}]}