Research output: Contribution to Journal/Magazine › Journal article › peer-review
Research output: Contribution to Journal/Magazine › Journal article › peer-review
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TY - JOUR
T1 - A novel method with improved power to detect recombination hotspots from polymorphism data reveals multiple hotspots in human genes.
AU - Fearnhead, Paul
AU - Smith, Nick G. C.
PY - 2005
Y1 - 2005
N2 - We introduce a new method for detection of recombination hotspots from population genetic data. This method is based on (a) defining an (approximate) penalized likelihood for how recombination rate varies with physical position and (b) maximizing this penalized likelihood over possible sets of recombination hotspots. Simulation results suggest that this is a more powerful method for detection of hotspots than are existing methods. We apply the method to data from 89 genes sequenced in African American and European American populations. We find many genes with multiple hotspots, and some hotspots show evidence of being population-specific. Our results suggest that hotspots are randomly positioned within genes and could be as frequent as one per 30 kb.
AB - We introduce a new method for detection of recombination hotspots from population genetic data. This method is based on (a) defining an (approximate) penalized likelihood for how recombination rate varies with physical position and (b) maximizing this penalized likelihood over possible sets of recombination hotspots. Simulation results suggest that this is a more powerful method for detection of hotspots than are existing methods. We apply the method to data from 89 genes sequenced in African American and European American populations. We find many genes with multiple hotspots, and some hotspots show evidence of being population-specific. Our results suggest that hotspots are randomly positioned within genes and could be as frequent as one per 30 kb.
U2 - 10.1086/497579
DO - 10.1086/497579
M3 - Journal article
VL - 77
SP - 781
EP - 794
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 1537-6605
IS - 5
ER -