ensembl-annotation

SKILLFlusso di lavorocommunity
v0.0.0ammawlaAGPL-3.0Aggiornato 26 g faFonte →

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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26 g faUltimo aggiornamento
Skill
Autoreammawla
Versione0.0.0
LicenzaAGPL-3.0
CategoriaFlusso di lavoro
Formatiskill.md
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Descrizione

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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