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| LD区块分析× | 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≠ | 2002 | 2007 |
| 提出者≠ | Shaun Gabriel & Eric Lander | Shaun Purcell & Nicholas Wray |
| 类型≠ | Haplotype analysis method | Predictive genomic method |
| 开创性文献≠ | Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., & Lander, E. S. (2002). The structure of haplotype blocks in the human genome. Science, 296(5576), 2225–2229. DOI ↗ | 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 | Haplotype block analysis, LD mapping, Block structure analysis | PRS, Polygenic score, Genomic risk score |
| 相关≠ | 5 | 4 |
| 摘要≠ | Linkage disequilibrium (LD) block analysis is a genomic method that partitions the human genome into distinct haplotype blocks—regions of limited recombination where variants are in strong statistical association. First systematically described by Gabriel and colleagues in 2002, this approach reveals the underlying structure of genetic variation and enables efficient genomic studies by reducing the number of variants needed to capture common diversity. LD block analysis forms the foundation of genome-wide association study (GWAS) design and modern population genetics. | 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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