ArticleAmerican journal of human genetics2004
Population-genetic basis of haplotype blocks in the 5q31 region.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 17 citations in OpenAlex.
- BLOCK-BASED BAYESIAN EPISTASIS ASSOCIATION MAPPING WITH APPLICATION TO WTCCC TYPE 1 DIABETES DATA.The annals of applied statistics · 2011Article
- Haplotype block partitioning as a tool for dimensionality reduction in SNP association studies.BMC genomics · 2008Article
- Identifying haplotype block structure using an ancestor-derived model.Journal of human genetics · 2007Article
- Calibrating a coalescent simulation of human genome sequence variation.Genome research · 2005Article
- The extent and importance of intragenic recombination.Human genomics · 2004Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
We investigated patterns of nucleotide variation in the 5q31 region identified by Daly et al. as containing haplotype blocks, to determine whether the blocklike pattern requires the assumption of hotspots in recombination. Using extensive simulations that generate data matched to the Daly et al. data set in (a) the method of ascertainment of single-nucleotide polymorphisms, (b) the heterozygosity of ascertained markers, (c) the number of block boundaries, and (d) the diversity of haplotypes within blocks, we show that the patterns found in the Daly et al. data are not consistent with the assumption of uniform recombination in a population of constant size but are consistent either with the presence of hotspots in a population of constant size or with the absence of hotspots if there was a period of rapid population growth. We further show that estimates of local recombination rate can distinguish between population growth and hotspots as the primary cause of a blocklike pattern. Estimates of local recombination rates for the Daly et al. data do not indicate the presence of recombination hotspots.
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