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Análise de Blocos de DL×Escore de Risco Poligênico×
ÁreaGenéticaGenética
FamíliaProcess / pipelineProcess / pipeline
Ano de origem20022007
Autor originalShaun Gabriel & Eric LanderShaun Purcell & Nicholas Wray
TipoHaplotype analysis methodPredictive genomic method
Fonte seminalGabriel, 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 ↗
Outros nomesHaplotype block analysis, LD mapping, Block structure analysisPRS, Polygenic score, Genomic risk score
Relacionados54
ResumoLinkage 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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ScholarGateComparar métodos: LD Block Analysis · Polygenic Risk Score. Recuperado em 2026-06-18 de https://scholargate.app/pt/compare