ensembl-annotation

SKILLWorkflowcommunauté
v0.0.0ammawlaAGPL-3.0Mis à jour il y a 26 jSource →

Query the Ensembl REST API for regulatory feature annotations, variant effect prediction (VEP), coordinate liftover, gene lookups, and cross-references. Use when the user needs to annotate variants with VEP (consequence, CADD, REVEL, SpliceAI), check Ensembl Regulatory Build overlap for ENCODE regio

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il y a 26 jDernière mise à jour
Skill
Auteurammawla
Version0.0.0
LicenceAGPL-3.0
CatégorieWorkflow
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À propos

Query the Ensembl REST API for regulatory feature annotations, variant effect prediction (VEP), coordinate liftover, gene lookups, and cross-references. Use when the user needs to annotate variants with VEP (consequence, CADD, REVEL, SpliceAI), check Ensembl Regulatory Build overlap for ENCODE regions, convert coordinates between GRCh37 and GRCh38, resolve gene IDs (Ensembl ↔ symbol ↔ RefSeq), loo

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