Process / pipelineGenomic variation analysis
LD Block Analysis
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.
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Sources
- 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. DOI: 10.1126/science.1069424 ↗
- Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J., & Lander, E. S. (2001). High-resolution haplotype structure in the human genome. Nature Genetics, 29(2), 229–232. DOI: 10.1038/ng1001-229 ↗
- Wang, N., Akey, J. M., Zhang, K., Chakraborty, R., & Jin, L. (2005). Distribution of recombination crossovers and the origin of block-like patterns of linkage disequilibrium. Genetics, 155(4), 1599–1606. DOI: 10.1093/genetics/155.4.1599 ↗