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
Atualizado 4/6/2026
Estrelas
471
Forks
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.
Instalação
$ install --globalskills.sh
Uso
Depois de instalar, você pode usar esta skill executando o seguinte comando no terminal:
skills use bio-variant-annotation