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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
آخر تحديث 4/6/2026
النجوم
471
التفرعات
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.

التثبيت
$ install --globalskills.sh
الاستخدام

بعد التثبيت، يمكنك استخدام هذه المهارة بتشغيل الأمر التالي في الطرفية:

skills use bio-variant-annotation