domains / families / science / tooluniverse-gwas-finemapping

tooluniverse-gwas-finemapping

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Identify and prioritize causal variants at GWAS loci using statistical fine-mapping and locus-to-gene predictions. Computes posterior probabilities for causal variants, links variants to genes via L2G predictions, annotates functional consequences, and suggests validation strategies. Use when asked to fine-map GWAS loci, prioritize causal variants, identify credible sets, or link GWAS signals to causal genes.

When to use

• fine-map GWAS loci
• prioritize causal variants
• identify credible sets
• link GWAS signals to causal genes
• annotate variants with functional consequences
• suggest validation strategies
• search GWAS studies for a disease
• get credible sets for a study

When not to use

• **LD-dependent**: Fine-mapping accuracy depends on LD structure matching the study population
• **Requires summary stats**: Not all studies provide full summary statistics
• **Computational intensive**: Fine-mapping large studies takes significant resources
• **Prior assumptions**: Bayesian methods depend on priors (number of causal variants, effect sizes)
• **Missing data**: Not all GWAS loci have been fine-mapped in Open Targets

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