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Workflow Overview

CheckRef performs allele switch detection and correction through a series of automated steps.

Pipeline Summary

mermaid
graph TD
    A[Input VCF Files] --> B[VALIDATE_VCF_FILES]
    B --> C[CHECK_ALLELE_SWITCH]
    D[Reference Legend Files] --> C
    C --> E{fixMethod?}
    E -->|remove| F[REMOVE_SWITCHED_SITES]
    E -->|correct| G[CORRECT_SWITCHED_SITES]
    F --> H[VERIFY_CORRECTIONS]
    G --> H
    H --> I[CREATE_SUMMARY]
    I --> J[Final Results]

Process Flow

1. Validation

  • Check VCF file integrity
  • Detect corrupted or empty files
  • Verify VCF format compliance

2. Chromosome Matching

  • Extract chromosome from filename
  • Pair VCF with corresponding legend file
  • Skip files without matches

3. Allele Switch Detection

  • Extract common positions
  • Compare REF/ALT orientations
  • Identify mismatches
  • Detect build incompatibilities

4. Correction/Removal

Remove mode: Exclude switched sites
Correct mode: Swap REF↔ALT alleles

5. Verification

  • Re-check fixed VCF files
  • Confirm all switches resolved
  • Report any remaining issues

6. Summary Generation

  • Aggregate statistics across chromosomes
  • Calculate overlap percentages
  • Generate final reports

See Also

Released under the MIT License.