Methoden vergleichen

	LD Block Analyse	IBD-Mapping
Fachgebiet	Genetik	Genetik
Familie	Process / pipeline	Process / pipeline
Entstehungsjahr	2002	1987
Urheber	Shaun Gabriel & Eric Lander	Eric Lander & David Botstein
Typ	Haplotype analysis method	Genomic mapping method
Wegweisende Quelle	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.	Lander, E. S., & Botstein, D. (1987). Homozygosity mapping of autosomal recessive disorders in consanguineous families. American Journal of Human Genetics, 36(3), 537–551.
Aliasnamen	Haplotype block analysis, LD mapping, Block structure analysis	IBD mapping, Autozygosity mapping, Homozygosity mapping
Verwandt	5	4
Zusammenfassung	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.	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.