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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.

SUBMITTER: Hecker J 

PROVIDER: S-EPMC4696844 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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On the Recombination Rate Estimation in the Presence of Population Substructure.

Hecker Julian J   Prokopenko Dmitry D   Lange Christoph C   Fier Heide Löhlein HL  

PloS one 20151230 12


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  ...[more]

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