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
更新于 4/6/2026
星标
471
分支
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.
安装
$ install --globalskills.sh
使用
安装后，您可以通过在终端运行以下命令来使用此技能：
skills use bio-variant-annotation