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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:PLoS One
Päätekijät: Pandey, Ram Vinay, Pabinger, Stephan, Kriegner, Albert, Weinhäusel, Andreas
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2016
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4739551/
https://ncbi.nlm.nih.gov/pubmed/26840129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0147697
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