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A 4-Mb high-density single nucleotide polymorphism-based map around human APOE.
E Lai; J Riley; I Purvis; A Roses (Profiled Author: Roses, Allen D)
US Discovery Genetics, GlaxoWellcome, Inc., 5 Moore Drive, Research Triangle Park, North Carolina, 27709, USA.
Whole-genome association studies using single-nucleotide polymorphisms (SNPs) are the proposed method of choice for the identification of loci associated with complex diseases. In this report, we address the feasibility of generating high-density SNP maps (with <100-kb spacing). As a pilot study, we concentrated on a 4-Mb region around the human APOE locus on chromosome 19. We compared the efficiency of SNP detection using YAC-based versus BAC/PAC-based maps, sequencing individual DNAs versus a pooled DNA sample, and we evaluated three different software applications for polymorphism detection. A total of 121 SNPs (25 in coding regions) were identified. The frequency of SNP detection was 1 SNP/1.1 kb of genomic sequence. From APOE to CALM3 (approximately 2 Mb), the average marker spacing was approximately 30 kb. Fifty-one SNPs were genotyped in five populations, and 10 SNPs showed an allele frequency differential greater than 0.5 between populations. Our results demonstrated that high-density SNP maps can be efficiently generated using existing technologies and that a genome-wide map with 60,000-100,000 SNPs is achievable in a reasonable time frame.
This section shows information related to the publication - computed using the fingerprint of the publication - including related publications, related experts and related grants with fingerprints representing significant amounts of overlap between their fingerprint and this publication. The red dots indicate whether those experts or terms appear within the publication, thereby showing potential and actual connections.
ROSES, ALLEN D
1 July 1983 - 31 March 1992
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Total Funding: $ 1,923,787
PERICAK-VANCE, MARGARET A
1 July 1990 - 30 June 1991
NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Total Funding: $ 27,853
Mayeux, Richard P
1 December 1998 - 31 January 2004
NATIONAL INSTITUTE ON AGING
Total Funding: $ 5,549,515
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