title: Recombination hotspots as a point process.
abstract: The variation of the recombination rate along chromosomal DNA is one of the important determinants of the patterns of linkage disequilibrium. A number of inferential methods have been developed which estimate the recombination rate and its variation from population genetic data. The majority of these methods are based on modelling the genealogical process underlying a sample of DNA sequences and thus explicitly include a model of the demographic process. Here we propose a different inferential procedure based on a previously introduced framework where recombination is modelled as a point process along a DNA sequence. The approach infers regions containing putative hotspots based on the inferred minimum number of recombination events; it thus depends only indirectly on the underlying population demography. A Poisson point process model with local rates is then used to infer patterns of recombination rate estimation in a fully Bayesian framework. We illustrate this new approach by applying it to several population genetic datasets, including a region with an experimentally confirmed recombination hotspot.
authors.affiliation: Department of Epidemiology and Public Health, Faculty of Medicine, Imperial College London, St Mary's Campus, Norfolk Place, London W2 1PG, UK.
authors.forename: Maria
authors.initials: M
authors.lastname: De Iorio
authors.forename: Eric
authors.initials: E
authors.lastname: de Silva
authors.forename: Michael P H
authors.initials: MP
authors.lastname: Stumpf
mesh_terms: D001499:Bayes Theorem; D002877:Chromosomes, Human / Q000235:genetics*; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D015810:Linkage Disequilibrium; D008957:Models, Genetic; D011995:Recombination, Genetic / Q000235:genetics*