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LD-blokkide analüüs×Polügeenne riskiskoor×
ValdkondGeneetikaGeneetika
PerekondProcess / pipelineProcess / pipeline
Tekkeaasta20022007
LoojaShaun Gabriel & Eric LanderShaun Purcell & Nicholas Wray
TüüpHaplotype analysis methodPredictive genomic method
AlgallikasGabriel, 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 ↗
RööpnimetusedHaplotype block analysis, LD mapping, Block structure analysisPRS, Polygenic score, Genomic risk score
Seotud54
KokkuvõteLinkage 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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ScholarGateVõrdle meetodeid: LD Block Analysis · Polygenic Risk Score. Loetud 2026-06-18 aadressilt https://scholargate.app/et/compare