全部文献期刊会议图书|学者科研项目
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作者:Stephan Pabinger , Albert Kriegner
来源:[J].BMC Bioinformatics(IF 3.024), 2016, Vol.17 (1)Springer
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 a...
作者:Stephan Pabinger , Robert Rader ...
来源:[J].BMC Systems Biology(IF 2.982), 2011, Vol.5 (1)Springer
摘要:Abstract(#br) Background(#br)Recent advances in genomic sequencing have enabled the use of genome sequencing in standard biological and biotechnological research projects. The challenge is how to integrate the large amount of data in order to gain novel biological insights. One w...
作者:Stephan Pabinger , Albert Kriegner
来源:[J].PLoS ONE(IF 3.73), 2017, Vol.11 (2)DOAJ
摘要:Traditional Sanger sequencing as well as Next-Generation Sequencing have been used for the identification of disease causing mutations in human molecular research. The majority of currently available tools are developed for research and explorative purposes and often do not provi...
作者:Stephan Pabinger , Albert Kriegner ...
来源:[J].Journal of Clinical Virology(IF 3.287), 2018, Vol.101, pp.38-43Elsevier
摘要:Abstract(#br)Background(#br)It is essential that hepatitis B surface antigen (HBsAg) diagnostic assays reliably detect genetic diversity in the major hydrophilic region (MHR) of HBsAg to avoid false-negative results. Mutations in this domain display marked ethno-geographic v...
作者:Stephan Pabinger , Albert Kriegner ...
来源:[J].Journal of Clinical Virology(IF 3.287), 2018, Vol.103, pp.48-56Elsevier
摘要:Abstract(#br)Background(#br)To avoid false negative results, hepatitis B surface antigen (HBsAg) assays need to detect samples with mutations in the immunodominant ‘a’ determinant region, which vary by ethnographic region.(#br)Objective(#br)We evaluated the prevalence and ty...
作者:Stephan Pabinger , Albert Kriegner
来源:[J].Human Mutation(IF 5.213), 2017, Vol.38 (7), pp.778-787Wiley
摘要:Abstract(#br)Next‐generation sequencing (NGS) has become a powerful and efficient tool for routine mutation screening in clinical research. As each NGS test yields hundreds of variants, the current challenge is to meaningfully interpret the data and select potential candidat...

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