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"Use of HGMD Mutation Data Within Popular Variant Annotation Tools"
"Use of HGMD Mutation Data Within Popular Variant Annotation Tools"
HGMD is the industry leading database for published, inherited disease mutations
In this technical note we identify a subset of popular variant annotation tools that are able to work with HGMD data and provide a step-by-step guide for the use of HGMD data by three of the tools: ANNOVAR, snpEff and VariantAnnotation – a Bioconductor package.
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