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
Actualizado 4/6/2026
Estrellas
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.
Instalación
$ install --globalskills.sh
Uso
Después de instalarlo, puedes usar este skill ejecutando el siguiente comando en tu terminal:
skills use bio-variant-annotation