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 ...
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 i...
Agent skill for Researcher, Data Scientist, ML / AI Engineer, published by FridrichMethod. Project details and file access are provided by the publisher.
Agent skill for Researcher, Data Scientist, ML / AI Engineer, published by Rudson-Oliveira. Project details and file access are provided by the publisher.
Agent skill for Researcher, Data Scientist, Business Intelligence Analyst, published by Rudson-Oliveira. Project details and file access are provided by the publisher.
Agent skill for Researcher, Clinical Research, Data Scientist, published by BioTender-max. Project details and file access are provided by the publisher.