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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1007/bf03314270

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1432-1203

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Searching for signals of evolutionary selection in

Authors: Emily C Walsh Pardis Sabeti Holli B Hutcheson Ben Fry Stephen F Schaffner Paul I W de Bakker Patrick Varilly Alejandro A Palma Jessica Roy Richard Cooper Cheryl Winkler Yi Zeng Guy de The Eric S Lander Stephen O’Brien David Altshuler
Publish Date: 2005/12/14
Volume: 119, Issue: 1-2, Pages: 92-102
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Abstract

Pathogens have played a substantial role in human evolution with past infections shaping genetic variation at loci influencing immune function We selected 168 genes known to be involved in the immune response genotyped common single nucleotide polymorphisms across each gene in three population samples CEPH Europeans from Utah Han Chinese from Guangxi and Yoruba Nigerians from Southwest Nigeria and searched for evidence of selection based on four tests for nonneutral evolution minor allele frequency MAF derived allele frequency DAF Fst versus heterozygosity and extended haplotype homozygosity EHH Six of the 168 genes show some evidence for nonneutral evolution in this initial screen with two showing similar signals in independent data from the International HapMap Project These analyses identify two loci involved in immune function that are candidates for having been subject to evolutionary selection and highlight a number of analytical challenges in searching for selection in genomewide polymorphism dataECW was supported by a Cancer Research Institute fellowship PCS is funded by the Damon Runyon Cancer Research Foundation and by a L’Oreal Women in Science Award HBH is an NCI Cancer Research Training Award CRTA Postdoctoral Fellow This work was funded through a special grant from the National Institutes of Health National Institute of Allergy and Infectious Disease This publication has been funded in whole or in part with Federal funds from the National Cancer Institute National Institutes of Health under contract no NO1CO12400 The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services nor does mention of trade names commercial products or organizations imply endorsement by the US Government This research was support in part by the Intramural Research Program of the NIH National Cancer Institute Center for Cancer Research

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