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tooluniverse-gwas-finemapping
Statistical fine-mapping of GWAS loci using credible sets (SuSiE, FINEMAP) and locus-to-gene scoring (Open Targets L2G). Identifies likely causal variants and target genes — distinct from positional 'nearest gene' which is often wrong. Use for prioritizing causal variants at GWAS hits, comparing fine-mapping methods, and converting lead SNPs to target genes.
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## COMPUTE, DON'T DESCRIBE
When analysis requires computation (statistics, data processing, scoring, enrichment), write and run Python code via Bash. Don't describe what you would do — execute it and report actual results. Use ToolUniverse tools to retrieve data, then Python (pandas, scipy, statsmodels, matplotlib) to analyze it.
# GWAS Fine-Mapping & Causal Variant Prioritization
Identify and prioritize causal variants at GWAS loci using statistical fine-mapping and locus-to-gene predictions.
## Overview
Genome-wide association studies (GWAS) identify genomic regions associated with traits, but linkage disequilibrium (LD) makes it difficult to pinpoint the causal variant. **Fine-mapping** uses Bayesian statistical methods to compute the posterior probability that each variant is causal, given the GWAS summary statistics.
**REASONING STRATEGY — Start Here**:
Fine-mapping asks: which variant at this locus is CAUSAL? Work through this chain:
1. **LD structure first** — variants in high LD (r² > 0.8) cannot be statistically distinguished from each other. Look up the LD block via Open Targets or the GWAS Catalog before assuming any single variant is the cause.