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MutAid: Sanger and NGS Based Integrated Pipeline for Mutation Identification, Validation and Annotation in Human Molecular Genetics
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 provide a complete, effic...
Autores principales: | Pandey, Ram Vinay, Pabinger, Stephan, Kriegner, Albert, Weinhäusel, Andreas |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739551/ https://www.ncbi.nlm.nih.gov/pubmed/26840129 http://dx.doi.org/10.1371/journal.pone.0147697 |
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