Getting Started¶
What is CREDTOOLS?¶
CREDTOOLS (Credible Set Tools) is a comprehensive pipeline for performing statistical fine-mapping analysis across multiple ancestries and cohorts. It provides a unified framework for:
- Quality Control: Assess the reliability of summary statistics and LD matrices
- Meta-Analysis: Combine data across populations and cohorts
- Fine-Mapping: Identify causal variants using multiple statistical methods
- Post-Processing: Combine and interpret results across studies
The CREDTOOLS Framework¶
CREDTOOLS's workflow can be visualized as follows:
graph TD
A[Multiple GWAS<br/>Summary Statistics] --> B[Quality Control]
C[Multiple LD<br/>Matrices] --> B
B --> D{Meta-Analysis Strategy}
D -->|Cross-Ancestry| E[Cross-Ancestry Meta]
D -->|Within-Ancestry| F[Within-Ancestry Meta]
D -->|No Meta| G[Keep Separate]
E --> H[Fine-Mapping]
F --> H
G --> H
H --> I{Fine-Mapping Strategy}
I -->|Single Input| J[Run on Each<br/>Study Separately]
I -->|Multi Input| K[Run on Combined<br/>Studies Together]
I -->|Post-hoc Combine| L[Run Separately<br/>Then Combine Results]
J --> M[Results Integration]
K --> M
L --> M
M --> N[Credible Sets &<br/>Posterior Probabilities]
Input Data¶
CREDTOOLS works with two main types of input data:
- Summary Statistics: GWAS results containing effect sizes, standard errors, and p-values
- LD Matrices: Linkage disequilibrium correlation matrices from reference panels
Meta-analysis Methods¶
CREDTOOLS supports three meta-analysis approaches:
meta_all
: Combine all studies regardless of ancestrymeta_by_population
: Combine studies within each ancestry separatelyno_meta
: Keep all studies separate
Fine-mapping Strategies¶
CREDTOOLS offers three complementary fine-mapping strategies:
-
- Single Input (
single_input
) - Use traditional fine-mapping tools that analyze one study at a time
- Best for: Well-powered single studies, ancestry-specific analysis
- Single Input (
-
- Multi Input (
multi_input
) - Use tools designed to analyze multiple studies simultaneously
- Best for: Leveraging shared causal architecture across populations
- Multi Input (
-
- Post-hoc Combine (
post_hoc_combine
) - Run single-input tools on each study, then combine results
- Best for: Maximum flexibility and interpretability
- Post-hoc Combine (
Quality Control¶
CREDTOOLS provides comprehensive QC including:
- Consistency checks: Kriging RSS to detect allele switches
- LD structure: Eigenvalue decomposition and 4th moment analysis
- Cross-study comparisons: Cochran's Q test for heterogeneity
- Frequency comparisons: MAF consistency across studies
Output Files¶
CREDTOOLS generates:
- Credible sets: Sets of variants likely to contain causal variants
- Posterior inclusion probabilities (PIPs): Individual variant probabilities
- QC reports: Detailed quality control metrics
- Meta-analysis results: Combined summary statistics and LD matrices
When to Use CREDTOOLS¶
Use Cases
- Multi-ancestry studies
- Leverage power across populations while accounting for LD differences
- Multiple cohorts per ancestry
- Combine studies within ancestry groups for increased power
- Heterogeneous effect sizes
- Use post-hoc combination to preserve ancestry-specific signals
- Quality control focus
- Extensive QC metrics help identify problematic data
Considerations
- Requires matched summary statistics and LD matrices
- Computational requirements scale with number of studies
- Some tools require specific data formats or parameter tuning
Next Steps¶
Now that you understand the CREDTOOLS framework, let's jump into a practical example:
👉 Quick Start Guide - Run your first CREDTOOLS analysis
Or explore specific scenarios:
- Single-Input Fine-Mapping for single-study analysis
- Multi-Input Fine-Mapping for multi-study analysis