Vertaile menetelmiä

	IBD-kartoitus	Polygeeninen riskipisteet
Tieteenala	Genetiikka	Genetiikka
Menetelmäperhe	Process / pipeline	Process / pipeline
Syntyvuosi	1987	2007
Kehittäjä	Eric Lander & David Botstein	Shaun Purcell & Nicholas Wray
Tyyppi	Genomic mapping method	Predictive genomic method
Alkuperäislähde	Lander, E. S., & Botstein, D. (1987). Homozygosity mapping of autosomal recessive disorders in consanguineous families. American Journal of Human Genetics, 36(3), 537–551.	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	IBD mapping, Autozygosity mapping, Homozygosity mapping	PRS, Polygenic score, Genomic risk score
Liittyvät	4	4
Tiivistelmä	Identity-by-descent (IBD) mapping is a genetic mapping technique that identifies disease loci in consanguineous families or isolated populations by detecting homozygous chromosomal segments shared among affected individuals. Developed by Lander and Botstein in 1987, this method exploits the fact that rare disease alleles in related individuals must lie within shared ancestral DNA blocks. By mapping regions where affected individuals are homozygous at multiple markers, researchers can localize disease genes to narrowly defined genomic intervals without prior knowledge of the disease mechanism.	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.