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Transition/transversion ratio (Ti/Tv)

Definition
AI-generated

The transition/transversion ratio (Ti/Tv) compares counts of transition SNVs (A↔G, C↔T) to transversions.

Why it matters in GWAS

Deviations from expected Ti/Tv can indicate systematic errors, contamination, or bad filtering—useful global QC before association.

Example usage

"Ti/Tv was 2.1 genome-wide, consistent with high-quality SNV calls."

References

  • Wang K, et al. (2010). ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res.

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