Vertaile menetelmiä

	LD-lohkoanalyysi	Polygeeninen riskipisteet
Tieteenala	Genetiikka	Genetiikka
Menetelmäperhe	Process / pipeline	Process / pipeline
Syntyvuosi	2002	2007
Kehittäjä	Shaun Gabriel & Eric Lander	Shaun Purcell & Nicholas Wray
Tyyppi	Haplotype analysis method	Predictive genomic method
Alkuperäislähde	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.	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.
Rinnakkaisnimet	Haplotype block analysis, LD mapping, Block structure analysis	PRS, Polygenic score, Genomic risk score
Liittyvät	5	4
Tiivistelmä	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.	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.