Variant annotation using Illumina Basespace Variant Interpreter
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2.7 years ago

Hello, I am working on whole exome data (Illumina data) and now I want to do variant annotation. I used several methods for annotation but not getting enough information. I heard about Illumina Basespace variant Interpreter, but I dont know how to use it. If anyone has an exposure, please help me in this. Thank you.

exome Whole • 1.0k views
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16 months ago
Zuber • 0

You can analyse/interpret/annotate it using Nirvana through command line. Only drawback is json (output) file filtering. (https://illumina.github.io/NirvanaDocumentation/)

please let me know if anyone or you can find a tool to easily filter the data.

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Nirvana has Jasix to filter that works similar with tabix.

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