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Use of HGMD Mutation Data Within Popular Variant Annotation Tools
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"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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