Tooluniverse Gwas Finemapping
CheckedThis skill precisely refines GWAS results by leveraging ToolUniverse's GWA Finemapping technology, pinpointing causal variants for enhanced genomic insights.
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Publisher
mims-harvard
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Live repository
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Automated safety checks
This skill passed all 6 checks. We read its files at one commit and looked for the things that make a skill dangerous to run — not for whether it works.
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Scanned mims-harvard/tooluniverse at f5c37eebeb.
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About this skill
What it does
This skill enables AI agents to perform fine-mapping analysis on Genome-Wide Association Study (GWAS) summary statistics. It helps identify specific causal genetic variants within broad genomic regions associated with a trait or disease by leveraging statistical methods and reference panels.
When to use it
- You have GWAS summary data and need to narrow down associations from hundreds of thousands of SNPs to a credible set of causal variants.
- You are conducting genetic research where pinpointing the exact biological mechanism behind a phenotypic association is critical.
- You require integration of functional annotations or reference panels (like 1000 Genomes) to prioritize variants in specific populations.
- Your workflow involves downstream tasks like polygenic risk score refinement or Mendelian randomization that depend on high-resolution variant localization.
Key capabilities
- Processes GWAS summary statistics files directly within the agent environment.
- Implements fine-mapping algorithms to calculate posterior inclusion probabilities (PIP) for variants.
- Integrates with external reference panels to account for linkage disequilibrium patterns.
- Outputs prioritized lists of candidate causal variants with statistical confidence metrics.
Example prompts
- "Run a fine-mapping analysis on my uploaded GWAS summary statistics using the default reference panel and return the top 10 credible set variants."
- "Perform conditional fine-mapping to distinguish independent signals within the identified locus for height, adjusting for population stratification."
- "Execute a Bayesian fine-mapping workflow incorporating functional annotation weights to prioritize non-coding regulatory variants in the FTO region."
Tips & gotchas
Ensure your input GWAS summary statistics include standard columns (e.g., SNP ID, effect allele, non-effect allele, effect size, p-value) to avoid parsing errors. Fine-mapping accuracy heavily depends on the quality and ancestry match of the reference panel used; mismatched populations can lead to inflated false positives or missed causal signals.