A haplotype map of the human genome
文献类型：期刊论文
| 作者 | Altshuler, D; Brooks, LD; Chakravarti, A; Collins, FS; Daly, MJ; Donnelly, P; Gibbs, RA; Belmont, JW; Boudreau, A; Leal, SM |
| 刊名 | Nature
 |
| 出版日期 | 2005-10-27 |
| 卷号 | 437期号:7063页码:1299-1320 |
| ISSN号 | 0028-0836 |
| DOI | 10.1038/nature04226 |
| 通讯作者 | Altshuler, d(altshuler@molbio.mgh.harvard.edu) |
| 英文摘要 | Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms ( snps) for which accurate and complete genotypes have been obtained in 269 dna samples from four populations, including ten 500-kilobase regions in which essentially all information about common dna variation has been extracted. these data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of snps with many of their neighbours. we show how the hapmap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution. |
| WOS关键词 | SINGLE-NUCLEOTIDE POLYMORPHISM ; RECENT POSITIVE SELECTION ; FACTOR-H POLYMORPHISM ; LINKAGE-DISEQUILIBRIUM ; MACULAR DEGENERATION ; RECOMBINATION RATES ; HUMAN-POPULATIONS ; SEGMENTAL DUPLICATIONS ; MEIOTIC RECOMBINATION ; TYROSINE-PHOSPHATASE |
| 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:000232829100044 |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2377466 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Altshuler, D |
| 作者单位 | 1.Harvard Univ, Broad Inst, Cambridge, MA 02139 USA 2.MIT, Cambridge, MA 02139 USA 3.Massachusetts Gen Hosp, Boston, MA 02114 USA 4.Harvard Univ, Sch Med, Simches Res Ctr, Boston, MA 02114 USA 5.Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA 6.Baylor Coll Med, Human Genome Sequencing Ctr, Dept Mol & Human Genet, Houston, TX 77030 USA 7.ParAllele Biosci Inc, San Francisco, CA 94080 USA 8.Chinese Acad Sci, Beijing Genom Inst, Beijing 100300, Peoples R China 9.Chinese Natl Human Genome Ctr, Beijing Econ Technol Dev Area, Beijing 100176, Peoples R China 10.Chinese Natl Human Genome Ctr Shanghai, Shanghai 201203, Peoples R China |
| 推荐引用方式 GB/T 7714 | Altshuler, D,Brooks, LD,Chakravarti, A,et al. A haplotype map of the human genome[J]. Nature,2005,437(7063):1299-1320. |
| APA | Altshuler, D.,Brooks, LD.,Chakravarti, A.,Collins, FS.,Daly, MJ.,...&Stewart, J.(2005).A haplotype map of the human genome.Nature,437(7063),1299-1320. |
| MLA | Altshuler, D,et al."A haplotype map of the human genome".Nature 437.7063(2005):1299-1320. |
入库方式： iSwitch采集
来源：中国科学院大学
浏览0
下载0
收藏0
其他版本
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。