Transition/transversion ratio (Ti/Tv)¶
Definition
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The transition/transversion ratio (Ti/Tv) compares counts of transition SNVs (A↔G, C↔T) to transversions.
Topics
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¶
Related terms¶
References¶
- Wang K, et al. (2010). ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res.
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