MutAid: Sanger and NGS Based Integrated Pipeline for Mutation Identification, Validation and Annotation in Human Molecular Genetics

Ram Vinay Pandey; Stephan Pabinger; Albert Kriegner; Andreas Weinhäusel

doi:10.1371/journal.pone.0147697

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Open Access

Peer-reviewed

Research Article

MutAid: Sanger and NGS Based Integrated Pipeline for Mutation Identification, Validation and Annotation in Human Molecular Genetics

Ram Vinay Pandey ,

* E-mail: ramvinay.pandey@gmail.com

Affiliations AIT Austrian Institute of Technology, Health and Environment Department, Molecular Diagnostics, Vienna, Austria, Institut für Populationsgenetik, Vetmeduni Vienna, Veterinärplatz 1, A-1210, Vienna, Austria
⨯
Stephan Pabinger,

Affiliation AIT Austrian Institute of Technology, Health and Environment Department, Molecular Diagnostics, Vienna, Austria
⨯
Albert Kriegner,

Affiliation AIT Austrian Institute of Technology, Health and Environment Department, Molecular Diagnostics, Vienna, Austria
⨯
Andreas Weinhäusel

Affiliation AIT Austrian Institute of Technology, Health and Environment Department, Molecular Diagnostics, Vienna, Austria
⨯

MutAid: Sanger and NGS Based Integrated Pipeline for Mutation Identification, Validation and Annotation in Human Molecular Genetics

Ram Vinay Pandey,
Stephan Pabinger,
Albert Kriegner,
Andreas Weinhäusel

Published: February 3, 2016
https://doi.org/10.1371/journal.pone.0147697

About the Authors

Ram Vinay Pandey

* E-mail: ramvinay.pandey@gmail.com

Affiliations AIT Austrian Institute of Technology, Health and Environment Department, Molecular Diagnostics, Vienna, Austria, Institut für Populationsgenetik, Vetmeduni Vienna, Veterinärplatz 1, A-1210, Vienna, Austria

Stephan Pabinger

Affiliation AIT Austrian Institute of Technology, Health and Environment Department, Molecular Diagnostics, Vienna, Austria

Albert Kriegner

Affiliation AIT Austrian Institute of Technology, Health and Environment Department, Molecular Diagnostics, Vienna, Austria

Andreas Weinhäusel

Affiliation AIT Austrian Institute of Technology, Health and Environment Department, Molecular Diagnostics, Vienna, Austria

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: AK RVP AW. Performed the experiments: RVP. Analyzed the data: RVP. Contributed reagents/materials/analysis tools: RVP AK SP. Wrote the paper: RVP. Contributed in manuscript revision and provided helpful suggestion throughout the manuscript preparation: SP.

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Genomics
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Next-generation sequencing
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Dideoxy DNA sequencing
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Genome sequencing
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Genomic databases
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Genome annotation
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Quality control
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Genome analysis
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