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QTL 매핑×다유전자 위험 점수×
분야유전학유전학
계열Process / pipelineProcess / pipeline
기원 연도19892007
창시자Eric Lander & David BotsteinShaun Purcell & Nicholas Wray
유형Genetic linkage methodPredictive genomic method
원전Lander, E. S., & Botstein, D. (1989). Mapping Mendelian traits using RFLP linkage maps. Genetics, 121(1), 185–199. 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 ↗
별칭QTL analysis, Linkage mapping, Trait locus mappingPRS, Polygenic score, Genomic risk score
관련44
요약Quantitative 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.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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