The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans
Open accessAbstract
More than 5 million single-nucleotide polymorphisms (SNPs) with minor-allele frequency greater than 10% are expected to exist in the human genome. Some of these SNPs may be associated with risk of developing common diseases. To assess the power of currently available SNPs to detect such associations, we resequenced 50 genes in two ethnic samples and measured patterns of linkage disequilibrium between the subset of SNPs reported in dbSNP and the complete set of common SNPs. Our results suggest that using all 2.7 million SNPs currently in the database would detect nearly 80% of all common SNPs in European populations but only 50% of those common in the African American population and that efficient selection of a minimal subset of SNPs for use in association studies requires measurement of allele frequency and linkage disequilibrium relationships for all SNPs in dbSNP.
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Citations
Cites
The Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
Kruglyak, L. (1999) · Nature Genetics · doi:10.1038/9642 · Cited by 1,416
Self-citation
Cited by
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
Self-citationMaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
Li, Y., Willer, C. J., Ding, J., Scheet, P., & Abecasis, G. R. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20533 · Cited by 1,843
SNPs in ecology, evolution and conservation
Morin, P. A., Luikart, G., Wayne, R. K., & the SNP workshop group (2004) · Trends in Ecology & Evolution · doi:10.1016/j.tree.2004.01.009 · Cited by 1,080
Haplotype blocks and linkage disequilibrium in the human genome
Wall, J. D., & Pritchard, J. K. (2003) · Nature Reviews Genetics · doi:10.1038/nrg1123 · Cited by 642
A High-Density Admixture Map for Disease Gene Discovery in African Americans
Smith, M. W., Patterson, N., Lautenberger, J. A., Truelove, A. L., McDonald, G. J., Waliszewska, A., Kessing, B. D., Malasky, M. J., Scafe, C., Le, E., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/420856 · Cited by 459
Metadata
- Authors
- Carlson, C. S., Eberle, M. A., Rieder, M. J., Smith, J. D., Kruglyak, L., & Nickerson, D. A.
- Venue
- Nature Genetics
- Published
- 2003-03-24
- Volume
- 33
- Issue
- 4
- Pages
- 518-521
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1996767070
- Cited by
- 317
- References
- 2
- FWCI
- 30.98
- Type
- journal article
- Language
- en
- Open access
- hybrid
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