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Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse 总被引:24,自引:0,他引:24
Lindblad-Toh K Winchester E Daly MJ Wang DG Hirschhorn JN Laviolette JP Ardlie K Reich DE Robinson E Sklar P Shah N Thomas D Fan JB Gingeras T Warrington J Patil N Hudson TJ Lander ES 《Nature genetics》2000,24(4):381-386
Single-nucleotide polymorphisms (SNPs) have been the focus of much attention in human genetics because they are extremely abundant and well-suited for automated large-scale genotyping. Human SNPs, however, are less informative than other types of genetic markers (such as simple-sequence length polymorphisms or microsatellites) and thus more loci are required for mapping traits. SNPs offer similar advantages for experimental genetic organisms such as the mouse, but they entail no loss of informativeness because bi-allelic markers are fully informative in analysing crosses between inbred strains. Here we report a large-scale analysis of SNPs in the mouse genome. We characterized the rate of nucleotide polymorphism in eight mouse strains and identified a collection of 2,848 SNPs located in 1,755 sequence-tagged sites (STSs) using high-density oligonucleotide arrays. Three-quarters of these SNPs have been mapped on the mouse genome, providing a first-generation SNP map of the mouse. We have also developed a multiplex genotyping procedure by which a genome scan can be performed with only six genotyping reactions per animal. 相似文献
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project 总被引:2,自引:0,他引:2
ENCODE Project Consortium Birney E Stamatoyannopoulos JA Dutta A Guigó R Gingeras TR Margulies EH Weng Z Snyder M Dermitzakis ET Thurman RE Kuehn MS Taylor CM Neph S Koch CM Asthana S Malhotra A Adzhubei I Greenbaum JA Andrews RM Flicek P Boyle PJ Cao H Carter NP Clelland GK Davis S Day N Dhami P Dillon SC Dorschner MO Fiegler H Giresi PG Goldy J Hawrylycz M Haydock A Humbert R James KD Johnson BE Johnson EM Frum TT Rosenzweig ER Karnani N Lee K Lefebvre GC Navas PA Neri F Parker SC Sabo PJ 《Nature》2007,447(7146):799-816
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