What problem does it solve?
Running a genome-wide association study normally requires manually orchestrating PLINK2 quality-control filters and REGENIE's two-step regression, writing hundreds of lines of bash, and tracking dozens of parameters. This Skill automates the entire workflow from genotype files to publication-ready Manhattan plots, QQ plots, and lead variant tables with a full reproducibility log.
Core Features & Use Cases
- Genotype QC via PLINK2: Applies field-standard filters for variant/sample missingness, minor allele frequency, Hardy-Weinberg equilibrium, and LD pruning based on Anderson et al. (2010) thresholds.
- REGENIE Two-Step Association: Runs Step 1 whole-genome ridge regression with LOCO predictions and Step 2 single-variant testing with Firth correction for binary traits or linear regression for quantitative traits.
- Post-GWAS Outputs: Generates Manhattan plots, QQ plots with lambda GC, lead variant extraction at genome-wide significance (P < 5e-8), summary statistics TSV, and a reproducibility bundle logging every command and software version.
- Use Case: A researcher with PLINK binary files (BED/BIM/FAM) and a phenotype file for a case-control study can run one command to obtain a complete GWAS report with QC summary, association results, and figures.
Quick Start
Run the GWAS pipeline in demo mode on the bundled REGENIE example dataset to produce a full association report with Manhattan and QQ plots.