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
์
๋ฐ์ดํธ๋จ 2026. 4. 6.
์คํ
471
ํฌํฌ
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.
์ค์น
$ install --globalskills.sh
์ฌ์ฉ๋ฒ
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skills use bio-variant-annotation