{"id":"hum0001","version":1,"url":"https://humandbs.dbcls.jp/research/hum0001/v1","datePublished":"2013-12-01","versions":[{"version":1,"datePublished":"2013-12-01"}],"title":{"ja":"SCA31罹患患者のゲノム解析データ","en":"Sequence Data of a SCA31 Patient"},"summary":{"aims":{"ja":"脊髄小脳失調症31型（SCA31）罹患患者の DNA における疾患固有の繰返し配列を同定する。\nまた、本データはゲノムインフォマティクス分野の研究者 の研究題材として有用と考え、共有する。","en":"To identify the short tandem repeats (STRs) with a 10-base repeat unit in spinocerebellar ataxia type 31 (SCA31).\nGenome informaticians are able to use this data for their research."},"methods":{"ja":"Illumina 社 HiSeq 2000 を利用して長さ100塩基のDNA断片を解読","en":"One hundred basepair paired-end reads sequenced from one DNA sample using an Illumina HiSeq 2000 platform."},"targets":{"ja":"SCA31罹患患者1名","en":"One SCA31patient"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Single-patient sequencing"},"targets":{"ja":"SCA31：1症例\n（日本人）","en":"1 Patient\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS）","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"このバージョンでは、脊髄小脳失調症31型（SCA31）罹患患者の DNA における疾患固有の繰返し配列を同定するため、Illumina 社 HiSeq 2000 を利用して平均長さ100塩基のDNA断片を解読した。","en":"To identify the short tandem repeats in a spinocerebellar ataxia type 31 (SCA31) patient, DNA sample extracted from peripheral blood were used as a library for NGS (Illumina HiSeq 2000, 100 bp, paired-end)."},"dataProviders":[{"name":{"ja":"森下 真一","en":"Shinichi Morishita"},"organization":{"name":{"ja":"東京大学大学院 新領域創成科学研究科 情報生命科学専攻","en":"Dept. of Computational Biology, Graduate School of Frontier Science, The Univ. of Tokyo"}}}],"researchProjects":[],"grants":[{"title":{"ja":"脳疾患パーソナルゲノム多様性を分析する情報学の創成","en":"Exploring informatics for brain diseases based on personal genomics"},"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":["22129008"]}],"relatedPublications":[{"title":"Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing","doi":"https://doi.org/10.1093/bioinformatics/btt647","datasets":["JGAD000002"]}],"datasets":["JGAD000002"],"controlledAccessUsers":[]}