Tag: gwas
Annotating Genetic Variants with ENCODE Data
Annotate genetic variants with ENCODE functional genomics data to identify causal regulatory elements and link them to target genes. The skill supports the full post-GWAS workflow, including tissue-specific mapping, enrichment testing, and …
gwas-encode integration for functional variant annotation
This skill facilitates the intersection of genome-wide association study variants with ENCODE's functional regulatory elements. It helps developers prioritise candidate causal mechanisms by identifying which disease-associated SNPs overlap …
annotate non-coding variants using encode data
This skill interprets non-coding genetic variation by layering ENCODE functional genomics annotations (e.g., cCREs, enhancers) onto variant sets. It supports the full post-GWAS workflow, including tissue-specific mapping, fine-mapping, and …
Annotating GWAS Variants with ENCODE Regulatory Data
This skill facilitates the integration of GWAS Catalog variant associations with ENCODE's functional regulatory elements. It allows developers to prioritize disease-associated non-coding variants by identifying overlaps with active enhancer…
Disease Research with ENCODE Functional Genomics
This skill enables researchers to investigate disease mechanisms by connecting GWAS variants to ENCODE regulatory elements and functional genomics data. It integrates ENCODE annotations with Open Targets, PubMed, and ClinicalTrials.gov to i…