ClinQC: a tool for quality control and cleaning of Sanger and NGS data in clinical research
作者: Ram Vinay PandeyStephan PabingerAlbert KriegnerAndreas Weinhäusel
作者单位: 1Molecular Diagnostics, AIT Austrian Institute of Technology GmbH
2Institut für Populationsgenetik, Vetmeduni Vienna
刊名: BMC Bioinformatics, 2016, Vol.17 (1)
来源数据库: Springer Journal
DOI: 10.1186/s12859-016-0915-y
关键词: Sanger sequencingNext generation sequencingQuality controlMolecular diagnostic testing
英文摘要: Abstract(#br) Background(#br)Traditional Sanger sequencing has been used as a gold standard method for genetic testing in clinic to perform single gene test, which has been a cumbersome and expensive method to test several genes in heterogeneous disease such as cancer. With the advent of Next Generation Sequencing technologies, which produce data on unprecedented speed in a cost effective manner have overcome the limitation of Sanger sequencing. Therefore, for the efficient and affordable genetic testing, Next Generation Sequencing has been used as a complementary method with Sanger sequencing for disease causing mutation identification and confirmation in clinical research. However, in order to identify the potential disease causing mutations with great sensitivity and specificity it is...
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影响因子:3.024 (2012)

  • cleaning 精选
  • control 控制
  • quality 品质
  • research 
  • clinical 临床的