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A novel method with improved power to detect recombination hotspots from polymorphism data reveals multiple hotspots in human genes.

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A novel method with improved power to detect recombination hotspots from polymorphism data reveals multiple hotspots in human genes. / Fearnhead, Paul; Smith, Nick G. C.
In: American Journal of Human Genetics, Vol. 77, No. 5, 2005, p. 781-794.

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Fearnhead, Paul ; Smith, Nick G. C. / A novel method with improved power to detect recombination hotspots from polymorphism data reveals multiple hotspots in human genes. In: American Journal of Human Genetics. 2005 ; Vol. 77, No. 5. pp. 781-794.

Bibtex

@article{64e63571c8a8458e930b9b5fdc592540,
title = "A novel method with improved power to detect recombination hotspots from polymorphism data reveals multiple hotspots in human genes.",
abstract = "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.",
author = "Paul Fearnhead and Smith, {Nick G. C.}",
year = "2005",
doi = "10.1086/497579",
language = "English",
volume = "77",
pages = "781--794",
journal = "American Journal of Human Genetics",
issn = "1537-6605",
publisher = "Cell Press",
number = "5",

}

RIS

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 -