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Kiểm định Bất cân bằng Truyền tải×Điểm rủi ro đa gen×
Lĩnh vựcDi truyền họcDi truyền học
HọProcess / pipelineProcess / pipeline
Năm ra đời19932007
Người khởi xướngRichard Spielman & Warren EwensShaun Purcell & Nicholas Wray
LoạiHypothesis testPredictive genomic method
Công trình gốcSpielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993). Transmission test for linkage disequilibrium. American Journal of Human Genetics, 52(3), 506–516. link ↗Purcell, S. M., Wray, N. R., Stone, J. L., Visscher, P. M., O'Donovan, M. C., Sullivan, P. F., & Sklar, P. (2007). Common polygenic variation contributes to risk of schizophrenia. Nature, 460(7256), 748–752. link ↗
Tên gọi khácTDT, Family-based association testPRS, Polygenic score, Genomic risk score
Liên quan44
Tóm tắtThe 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.A polygenic risk score (PRS) is a summary measure that aggregates the effects of many genetic variants across the genome to predict an individual's genetic predisposition to disease or other complex traits. Developed initially by Purcell and colleagues in 2007, PRS methods combine genome-wide association study (GWAS) results with an individual's genotype to generate a personalized risk estimate. PRS approaches have transformed precision medicine by enabling risk stratification and early intervention in populations at high genetic risk.
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