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| 传输失衡检验× | 多基因风险评分× | |
|---|---|---|
| 领域 | 遗传学 | 遗传学 |
| 方法族 | Process / pipeline | Process / pipeline |
| 起源年份≠ | 1993 | 2007 |
| 提出者≠ | Richard Spielman & Warren Ewens | Shaun Purcell & Nicholas Wray |
| 类型≠ | Hypothesis test | Predictive genomic method |
| 开创性文献≠ | Spielman, 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 ↗ |
| 别名≠ | TDT, Family-based association test | PRS, Polygenic score, Genomic risk score |
| 相关 | 4 | 4 |
| 摘要≠ | The 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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