TY  - JOUR
AU  - Hecker, Julian
AU  - Prokopenko, Dmitry
AU  - Lange, Christoph
AU  - Fier, Heide Löhlein
TI  - On the Recombination Rate Estimation in the Presence of Population Substructure.
JO  - PLOS ONE
VL  - 10
IS  - 12
SN  - 1932-6203
CY  - San Francisco, California, US
PB  - PLOS
M1  - DZNE-2020-04626
SP  - e0145152
PY  - 2015
AB  - 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.
KW  - Computer Simulation
KW  - Genetics, Population: methods
KW  - Genome, Human: genetics
KW  - HapMap Project
KW  - Humans
KW  - Models, Genetic
KW  - Recombination, Genetic: genetics
KW  - Regression Analysis
LB  - PUB:(DE-HGF)16
C6  - pmid:26716445
C2  - pmc:PMC4696844
DO  - DOI:10.1371/journal.pone.0145152
UR  - https://pub.dzne.de/record/138304
ER  -