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Transmission Disequilibrium Test (TDT)×IBD 매핑×
분야유전학유전학
계열Process / pipelineProcess / pipeline
기원 연도19931987
창시자Richard Spielman & Warren EwensEric Lander & David Botstein
유형Hypothesis testGenomic mapping method
원전Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993). Transmission test for linkage disequilibrium. American Journal of Human Genetics, 52(3), 506–516. link ↗Lander, E. S., & Botstein, D. (1987). Homozygosity mapping of autosomal recessive disorders in consanguineous families. American Journal of Human Genetics, 36(3), 537–551. link ↗
별칭TDT, Family-based association testIBD mapping, Autozygosity mapping, Homozygosity mapping
관련44
요약The Transmission Disequilibrium Test (TDT) is a family-based statistical method for testing genetic association with disease or traits while inherently controlling for population stratification. Developed by Spielman and Ewens in 1993, the TDT examines whether an allele is preferentially transmitted from heterozygous parents to affected children compared to unaffected children. By comparing transmission patterns within families, the TDT avoids the confounding effects of population structure that plague case-control studies, making it particularly valuable in admixed or stratified populations.Identity-by-descent (IBD) mapping is a genetic mapping technique that identifies disease loci in consanguineous families or isolated populations by detecting homozygous chromosomal segments shared among affected individuals. Developed by Lander and Botstein in 1987, this method exploits the fact that rare disease alleles in related individuals must lie within shared ancestral DNA blocks. By mapping regions where affected individuals are homozygous at multiple markers, researchers can localize disease genes to narrowly defined genomic intervals without prior knowledge of the disease mechanism.
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