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Transmission Disequilibrium Test (TDT)

Definition
AI-generated

The transmission disequilibrium test compares alleles transmitted versus not transmitted from heterozygous parents to affected offspring in trios, testing for excess transmission of a risk allele while using the non-transmitted allele as an internal control for population stratification.

Topics
Core genetics
Related
Case-Control Study Genome-Wide Association Study (GWAS) Mendelian Error

Why it matters in GWAS

TDT and related family-based tests are robust to population structure for testing within families; they complement case-control GWAS and support assessment of Mendelian transmission before rare-variant or trio sequencing workflows.

Example usage

"We confirmed the GWAS SNP with TDT in 800 trios before pursuing deep sequencing of the locus."

Case-Control Study Genome-Wide Association Study (GWAS) Mendelian Error Pedigree Population Stratification
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References

  • Spielman RS, McGinnis RE, Ewens WJ. (1993). Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet.
  • Uffelmann E, et al. (2021). Genome-wide association studies. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-021-00056-9
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