home/categories/scientific-computing/gptomics-bioskills-variant-calling-variant-annotation-skill-md
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.

GPTomics
maintainer
GPTomics
अपडेट किया गया 4/6/2026
स्टार
471
फोर्क
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.

इंस्टॉलेशन
$ install --globalskills.sh
उपयोग

इंस्टॉल करने के बाद, आप टर्मिनल में यह कमांड चलाकर इस स्किल का उपयोग कर सकते हैं:

skills use bio-variant-annotation