snpeff-variant-annotation

SKILLWorkflowcommunauté
v0.0.0jaechang-hitsNOASSERTIONMis à jour il y a 5 jSource →

Annotate and filter VCF variants with SnpEff and SnpSift. SnpEff predicts functional effects (HIGH/MODERATE/LOW/MODIFIER), genes, transcripts, AA changes, HGVS; SnpSift filters and adds ClinVar/dbSNP. Java CLI with Python subprocess integration. Use ANNOVAR for multi-database annotation; Ensembl VEP

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il y a 5 jDernière mise à jour
Skill
Auteurjaechang-hits
Version0.0.0
LicenceNOASSERTION
CatégorieWorkflow
Formatsskill.md
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Gemini
À propos

Annotate and filter VCF variants with SnpEff and SnpSift. SnpEff predicts functional effects (HIGH/MODERATE/LOW/MODIFIER), genes, transcripts, AA changes, HGVS; SnpSift filters and adds ClinVar/dbSNP. Java CLI with Python subprocess integration. Use ANNOVAR for multi-database annotation; Ensembl VEP for REST API; SnpEff for fast CLI with pre-built genomes.

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