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bio-variant-annotation

Comprehensive variant annotation using bcftools annotate/csq, VEP, SnpEff, and ANNOVAR. Add database annotations, predict functional consequences, and assess clinical significance with MANE transcript selection and pathogenicity scoring. Use when annotating variants with functional and clinical information.

View Sourcescientific-computing
GPTomics
maintainer
GPTomics
Updated 4/6/2026
Stars
471
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81
quick start

Installation and usage

Comprehensive variant annotation using bcftools annotate/csq, VEP, SnpEff, and ANNOVAR. Add database annotations, predict functional consequences, and assess clinical significance with MANE transcript selection and pathogenicity scoring. Use when annotating variants with functional and clinical information.

Installation
$ install --globalskills.sh
Usage

Once installed, you can use this skill by running the following command in your terminal:

skills use bio-variant-annotation