排序方式: 共有3条查询结果,搜索用时 15 毫秒
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An SNP map of human chromosome 22 总被引:35,自引:0,他引:35
Mullikin JC Hunt SE Cole CG Mortimore BJ Rice CM Burton J Matthews LH Pavitt R Plumb RW Sims SK Ainscough RM Attwood J Bailey JM Barlow K Bruskiewich RM Butcher PN Carter NP Chen Y Clee CM Coggill PC Davies J Davies RM Dawson E Francis MD Joy AA Lamble RG Langford CF Macarthy J Mall V Moreland A Overton-Larty EK Ross MT Smith LC Steward CA Sulston JE Tinsley EJ Turney KJ Willey DL Wilson GD McMurray AA Dunham I Rogers J Bentley DR 《Nature》2000,407(6803):516-520
The human genome sequence will provide a reference for measuring DNA sequence variation in human populations. Sequence variants are responsible for the genetic component of individuality, including complex characteristics such as disease susceptibility and drug response. Most sequence variants are single nucleotide polymorphisms (SNPs), where two alternate bases occur at one position. Comparison of any two genomes reveals around 1 SNP per kilobase. A sufficiently dense map of SNPs would allow the detection of sequence variants responsible for particular characteristics on the basis that they are associated with a specific SNP allele. Here we have evaluated large-scale sequencing approaches to obtaining SNPs, and have constructed a map of 2,730 SNPs on human chromosome 22. Most of the SNPs are within 25 kilobases of a transcribed exon, and are valuable for association studies. We have scaled up the process, detecting over 65,000 SNPs in the genome as part of The SNP Consortium programme, which is on target to build a map of 1 SNP every 5 kilobases that is integrated with the human genome sequence and that is freely available in the public domain. 相似文献
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A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms 总被引:69,自引:0,他引:69
Sachidanandam R Weissman D Schmidt SC Kakol JM Stein LD Marth G Sherry S Mullikin JC Mortimore BJ Willey DL Hunt SE Cole CG Coggill PC Rice CM Ning Z Rogers J Bentley DR Kwok PY Mardis ER Yeh RT Schultz B Cook L Davenport R Dante M Fulton L Hillier L Waterston RH McPherson JD Gilman B Schaffner S Van Etten WJ Reich D Higgins J Daly MJ Blumenstiel B Baldwin J Stange-Thomann N Zody MC Linton L Lander ES Altshuler D;International SNP Map Working Group 《Nature》2001,409(6822):928-933
We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the human genome, providing an average density on available sequence of one SNP every 1.9 kilobases. These SNPs were primarily discovered by two projects: The SNP Consortium and the analysis of clone overlaps by the International Human Genome Sequencing Consortium. The map integrates all publicly available SNPs with described genes and other genomic features. We estimate that 60,000 SNPs fall within exon (coding and untranslated regions), and 85% of exons are within 5 kb of the nearest SNP. Nucleotide diversity varies greatly across the genome, in a manner broadly consistent with a standard population genetic model of human history. This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy. 相似文献
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非均匀光照下人脸眼睛的定位方法 总被引:4,自引:0,他引:4
考虑非均匀光照下人脸眼睛的检测问题,提出了一种利用高频信息模板匹配方法从复杂图像中定位人脸眼睛的方法。选取80幅光线较好的人脸图像,对它们做光线规范化,提取Gabor高频特征,构造模板。利用统计模式识别的原理,在眼睛的大致区域进行模板匹配,突出眉毛与眼睛这一整体的大致位置,然后进行二值投影,最终确定人眼的准确位置。大量实验表明,该算法具有很高的精度和很强的鲁棒性。 相似文献
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