title: On the Recombination Rate Estimation in the Presence of Population Substructure.
abstract: As recombination events are not uniformly distributed along the human genome, the estimation of fine-scale recombination maps, e.g. HapMap Project, has been one of the major research endeavors over the last couple of years. For simulation studies, these estimates provide realistic reference scenarios to design future study and to develop novel methodology. To achieve a feasible framework for the estimation of such recombination maps, existing methodology uses sample probabilities for a two-locus model with recombination, with recent advances allowing for computationally fast implementations. In this work, we extend the existing theoretical framework for the recombination rate estimation to the presence of population substructure. We show under which assumptions the existing methodology can still be applied. We illustrate our extension of the methodology by an extensive simulation study.
authors.affiliation: Institute of Genomic Mathematics, University of Bonn, Bonn, Germany.
authors.forename: Julian
authors.initials: J
authors.lastname: Hecker
authors.affiliation: Institute of Genomic Mathematics, University of Bonn, Bonn, Germany.
authors.forename: Dmitry
authors.initials: D
authors.lastname: Prokopenko
authors.affiliation: Institute of Genomic Mathematics, University of Bonn, Bonn, Germany.|Department of Biostatistics, Harvard School of Public Health, Boston, United States of America.|Channing Laboratory, Brigham and Women's Hospital, Boston, United States of America.|German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Lange
authors.affiliation: Institute of Genomic Mathematics, University of Bonn, Bonn, Germany.|Department of Biostatistics, Harvard School of Public Health, Boston, United States of America.
authors.forename: Heide Löhlein
authors.initials: HL
authors.lastname: Fier
mesh_terms: D003198:Computer Simulation; D005828:Genetics, Population / Q000379:methods; D015894:Genome, Human / Q000235:genetics*; D060148:HapMap Project; D006801:Humans; D008957:Models, Genetic; D011995:Recombination, Genetic / Q000235:genetics*; D012044:Regression Analysis