ISVASE: identification of sequence variant associated with splicing event using RNA-seq data
作者: Hasan Awad AljohiWanfei LiuQiang LinJun YuSongnian Hu
作者单位: 1King Abdulaziz City for Science and Technology and Chinese Academy of Sciences
2Beijing Institute of Genomics, Chinese Academy of Sciences
3Current address: Grail Scientific Co. Ltd.
刊名: BMC Bioinformatics, 2017, Vol.18 (1)
来源数据库: Springer Journal
DOI: 10.1186/s12859-017-1732-7
关键词: Sequence variantSplicing eventAssociationRNA-seqDNA mutationRNA editing
英文摘要: Exon recognition and splicing precisely and efficiently by spliceosome is the key to generate mature mRNAs. About one third or a half of disease-related mutations affect RNA splicing. Software PVAAS has been developed to identify variants associated with aberrant splicing by directly using RNA-seq data. However, it bases on the assumption that annotated splicing site is normal splicing, which is not true in fact.
原始语种摘要: Exon recognition and splicing precisely and efficiently by spliceosome is the key to generate mature mRNAs. About one third or a half of disease-related mutations affect RNA splicing. Software PVAAS has been developed to identify variants associated with aberrant splicing by directly using RNA-seq data. However, it bases on the assumption that annotated splicing site is normal splicing, which is not true in fact.
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:3.024 (2012)

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关键词翻译
关键词翻译
  • splicing 接合
  • RNA ROYAL NEPAL AIRLINES CORP.
  • identification 辨认
  • associated 相关的
  • spliceosome 剪接体
  • event 事件
  • variant 变体
  • editing 编辑
  • aberrant 异常的
  • recognition 识别