gnomad-variants

SKILLWorkflowcommunity
v0.0.0ammawlaAGPL-3.0Updated 21d agoSource →

Query gnomAD (Genome Aggregation Database) for population allele frequencies, gene constraint scores, and variant annotations to interpret ENCODE regulatory variants. Use when the user needs allele frequencies for variants in ENCODE regulatory elements, wants to assess gene constraint (pLI, LOEUF) f

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21d agoLast update
Skill
Authorammawla
Version0.0.0
LicenseAGPL-3.0
CategoryWorkflow
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Query gnomAD (Genome Aggregation Database) for population allele frequencies, gene constraint scores, and variant annotations to interpret ENCODE regulatory variants. Use when the user needs allele frequencies for variants in ENCODE regulatory elements, wants to assess gene constraint (pLI, LOEUF) for ENCODE target genes, needs population-specific frequencies for GWAS variants overlapping cCREs, w

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