scientific-computingresearch
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.
maintainer
GPTomics
更新於 4/6/2026
星標
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分支
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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.
安裝
$ install --globalskills.sh
使用
安裝後，您可以透過在終端機執行以下指令來使用此技能：
skills use bio-variant-annotation