regulomedb-database

SKILLWorkflowcommunity
v0.0.0jaechang-hitsNOASSERTIONUpdated 1d agoSource →

Query RegulomeDB v2 GET REST API to score variants for regulatory function and retrieve overlapping evidence (TF binding, histone marks, DNase peaks, footprints, motifs, eQTLs, chromatin state). Scores range 1a (strongest) to 7 (none). Use for GWAS hit prioritization, regulatory variant annotation,

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1d agoLast update
Skill
Authorjaechang-hits
Version0.0.0
LicenseNOASSERTION
CategoryWorkflow
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Query RegulomeDB v2 GET REST API to score variants for regulatory function and retrieve overlapping evidence (TF binding, histone marks, DNase peaks, footprints, motifs, eQTLs, chromatin state). Scores range 1a (strongest) to 7 (none). Use for GWAS hit prioritization, regulatory variant annotation, cis-regulatory discovery. Use clinvar-database for pathogenicity; gwas-database for trait associatio

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