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	A second generation human haplotype map of over 3.1 million snps
	Frazer, Kelly A.; Ballinger, Dennis G.; Cox, David R.; Hinds, David A.; Stuve, Laura L.; Gibbs, Richard A.; Belmont, John W.; Boudreau, Andrew; Hardenbol, Paul; Leal, Suzanne M.
刊名	Nature
	2007-10-18
卷号	449期号:7164页码:851-u3
ISSN号	0028-0836
DOI	10.1038/nature06258
通讯作者	Mcvean, gilean(mcvean@stats.ox.ac.uk)
英文摘要	We describe the phase ii hapmap, which characterizes over 3.1 million human single nucleotide polymorphisms (snps) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common snp variation in the populations surveyed. the map is estimated to capture untyped common variation with an average maximum r(2) of between 0.9 and 0.96 depending on population. we demonstrate that the current generation of commercial genome-wide genotyping products captures common phase ii snps with an average maximum r(2) of up to 0.8 in african and up to 0.95 in non-african populations, and that potential gains in power in association studies can be obtained through imputation. these data also reveal novel aspects of the structure of linkage disequilibrium. we show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. we show that recombination rates vary systematically around genes and between genes of different function. finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, snps, resulting from systematic differences in the strength or efficacy of natural selection between populations.
WOS关键词	GENOME-WIDE ASSOCIATION ; LINKAGE DISEQUILIBRIUM ; NATURAL-SELECTION ; MEIOTIC RECOMBINATION ; GENETIC ASSOCIATION ; HUMAN-POPULATIONS ; RECESSIVE TRAITS ; HAPMAP PROJECT ; HOT-SPOTS ; TAG SNPS
WOS研究方向	Science & Technology - Other Topics
WOS类目	Multidisciplinary Sciences
语种	英语
出版者	NATURE PUBLISHING GROUP
WOS记录号	WOS:000250230600036
内容类型	期刊论文
URI标识	http://www.corc.org.cn/handle/1471x/2379998
专题	中国科学院大学
通讯作者	McVean, Gilean
作者单位	1.Univ Oxford, Dept Stat, Oxford OX1 3TG, England 2.Scripps Res Inst, La Jolla, CA 92037 USA 3.Perlegen Sci Inc, Mountain View, CA 94043 USA 4.Baylor Coll Med, Dept Mol & Human Genet, Human Genome Sequencing Ctr, Houston, TX 77030 USA 5.Affymetrix Inc, Santa Clara, CA 95051 USA 6.Pacific Biosci, Menlo Pk, CA 94025 USA 7.Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA 8.Harvard Univ, Broad Inst, Cambridge, MA 02139 USA 9.MIT, Cambridge, MA 02139 USA 10.Chinese Acad Sci, Beijing Genom Inst, Beijing 100300, Peoples R China
推荐引用方式 GB/T 7714	Frazer, Kelly A.,Ballinger, Dennis G.,Cox, David R.,et al. A second generation human haplotype map of over 3.1 million snps[J]. Nature,2007,449(7164):851-u3.
APA	Frazer, Kelly A..,Ballinger, Dennis G..,Cox, David R..,Hinds, David A..,Stuve, Laura L..,...&Skol, Andrew.(2007).A second generation human haplotype map of over 3.1 million snps.Nature,449(7164),851-u3.
MLA	Frazer, Kelly A.,et al."A second generation human haplotype map of over 3.1 million snps".Nature 449.7164(2007):851-u3.

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