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Article

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

PloS one - 1 Jan 2016

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

Abstract excerpt

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, efficient, one-stop solution. As the focus of currently developed tools is mainly on NGS data analysis, no integrative...

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Identifiers

PMID: 26840129
DOI: 10.1371/journal.pone.0147697
PMCID: PMC4739551

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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