A second generation human haplotype map of over 3.1 million snps
文献类型：期刊论文
| 作者 | 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
 |
| 出版日期 | 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 |
| WOS记录号 | WOS:000250230600036 |
| 出版者 | NATURE PUBLISHING GROUP |
| URI标识 | http://www.irgrid.ac.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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来源：中国科学院大学
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