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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...

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Detalles Bibliográficos
Autores principales: Pandey, Ram Vinay, Pabinger, Stephan, Kriegner, Albert, Weinhäusel, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
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