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다유전자 위험 점수×QTL 매핑×
분야유전학유전학
계열Process / pipelineProcess / pipeline
기원 연도20071989
창시자Shaun Purcell & Nicholas WrayEric Lander & David Botstein
유형Predictive genomic methodGenetic linkage method
원전Purcell, 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 ↗Lander, E. S., & Botstein, D. (1989). Mapping Mendelian traits using RFLP linkage maps. Genetics, 121(1), 185–199. link ↗
별칭PRS, Polygenic score, Genomic risk scoreQTL analysis, Linkage mapping, Trait locus mapping
관련44
요약A 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.Quantitative trait loci (QTL) mapping is a genetic method that localizes chromosomal regions influencing quantitative traits—continuous phenotypes controlled by multiple genes and environmental factors. Developed by Lander and Botstein in 1989, QTL mapping uses linkage analysis and trait variation in segregating populations (such as F2 crosses or recombinant inbred lines) to identify genomic intervals containing loci that substantially affect trait values. This foundational approach has been extended to genome-wide association and is essential for understanding the genetic architecture of complex traits.
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