Variant Annotation and prioritization
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4.5 years ago

I have data of Whole Exome Data of Human with Pancreatic Cancer patient: I would like you to, 1. Annotate the variants 2. Prioritize variants on various parameters of importance
3. Extract Genotype information for the Non-Synonymous Variants.

Could anybody suggest me the tools to achieve this objective?

next-gen sequence • 873 views
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Entering edit mode
4.5 years ago
Vitis ★ 2.5k

The annotation tools snpEff would be a good start. You may also look at PyVCF to extract genotypes from VCF files.

http://snpeff.sourceforge.net

https://pyvcf.readthedocs.io/en/latest/

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