TURF
TURF (Tissue-specific Unified Regulatory Features) prioritizes regulatory non-coding genetic variants and predicts organism-wide and tissue/organ-specific regulatory impact by integrating RegulomeDB-derived features with evidence from over three thousand ENCODE functional genomics datasets.
Key Features:
- RegulomeDB integration: Built upon the RegulomeDB framework to derive regulatory annotations and features.
- Dual-level scoring: Produces organism-wide and tissue/organ-specific prediction scores for non-coding variants.
- ENCODE evidence integration: Leverages evidence from more than three thousand ENCODE functional genomics datasets to inform predictions.
- MPRA validation: Analyzes validated variants from massively parallel reporter assay (MPRA) experiments to validate predictive performance.
- Variant prioritization: Prioritizes regulatory variants within candidate lists from association studies with tissue-specific resolution.
- GWAS trait enrichment: Enriches identification of regulatory variants associated with genome-wide association study (GWAS) traits in trait-relevant organs.
Scientific Applications:
- Tissue-specific variant discovery: Identify tissue-specific regulatory variants among candidate variants from association studies.
- Functional interpretation of non-coding variation: Assess the potential regulatory impact of non-coding genetic variants across biological contexts.
- GWAS follow-up: Prioritize regulatory variants linked to GWAS traits in trait-relevant organs to inform downstream experimental studies.
Methodology:
Integrates RegulomeDB-derived features with evidence from over three thousand ENCODE functional genomics datasets and analyzes validated variants from massively parallel reporter assay (MPRA) experiments.
Topics
Details
- Tool Type:
- command-line tool
- Added:
- 12/13/2021
- Last Updated:
- 12/13/2021
Operations
Publications
Dong S, Boyle AP. Prioritization of regulatory variants with tissue-specific function in the non-coding regions of human genome. Unknown Journal. 2021. doi:10.1101/2021.03.09.434619.
Links
Issue tracker
https://github.com/Boyle-Lab/RegulomeDB-TURF/issues