Proceedings of the National Academy of Sciences · 2003 · 229 citations · 20 references
BiologyDisease SusceptibilityPhenotypic VariationLinkage DisequilibriumGenotype-phenotype AssociationMolecular EcologyHaplotype DeterminationMedicineGeneticsEvolutionary BiologyNatural SciencesHuman PolymorphismStatistical GeneticsGenetic VariationAllelic VariantAbrupt TransitionsPopulation GeneticsHaplotype Structure
The nature and organization of polymorphisms, or differences, between genomes of individuals are of great interest, because these variations can be associated with or even underlie phenotypic traits, including disease susceptibility. To gain insight into the genetic and evolutionary factors influencing such biological variation, we have examined the arrangement (haplotype) of single-nucleotide polymorphisms across the genomes of eight inbred strains of mice. These analyses define blocks of high or low diversity, often extending across tens of megabases that are delineated by abrupt transitions. These observations provide a striking contrast to the haplotype structure of the human genome.
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<tt>BLAT</tt>—The <tt>BLAST</tt>-Like Alignment Tool
W. James Kent · Genome Research · 2002 · 8.3K citations · Full text
The Structure of Haplotype Blocks in the Human Genome
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Linkage disequilibrium in the human genome
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High-resolution haplotype structure in the human genome
Mark J. Daly, John D. Rioux, S. F. Schaffner et al. · Nature Genetics · 2001 · 1.7K citations