Módszerek összehasonlítása

	Poligénes Kockázati Pontszám	LD blokk analízis
Tudományterület	Genetika	Genetika
Módszercsalád	Process / pipeline	Process / pipeline
Keletkezés éve	2007	2002
Megalkotó	Shaun Purcell & Nicholas Wray	Shaun Gabriel & Eric Lander
Típus	Predictive genomic method	Haplotype analysis method
Alapmű	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.	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.
Alternatív nevek	PRS, Polygenic score, Genomic risk score	Haplotype block analysis, LD mapping, Block structure analysis
Kapcsolódó	4	5
Összefoglaló	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.	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.