The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Haplotype Variation and Linkage Disequilibrium in 313 Human Genes
Abstract
Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.
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Cites
Searching for genetic determinants in the new millennium
Risch, N. J. (2000) · Nature · doi:10.1038/35015718 · Cited by 1,839
Inference of haplotypes from PCR-amplified samples of diploid populations.
(1990) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a040591 · Cited by 765
Cited by
Davey Smith, G., & Ebrahim, S. (2003) · International Journal of Epidemiology · doi:10.1093/ije/dyg070 · Cited by 5,882
The Diploid Genome Sequence of an Individual Human
Levy, S., Sutton, G., Ng, P. C., Feuk, L., Halpern, A. L., Walenz, B. P., Axelrod, N., Huang, J., Kirkness, E. F., Denisov, G., et al. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050254 · Cited by 1,778
Molecular evolution of FOXP2, a gene involved in speech and language
Enard, W., Przeworski, M., Fisher, S. E., Lai, C. S. L., Wiebe, V., Kitano, T., Monaco, A. P., & Pääbo, S. (2002) · Nature · doi:10.1038/nature01025 · Cited by 1,603
Botstein, D., & Risch, N. (2003) · Nature Genetics · doi:10.1038/ng1090 · Cited by 1,503
Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21
Patil, N., Berno, A. J., Hinds, D. A., Barrett, W. A., Doshi, J. M., Hacker, C. R., Kautzer, C. R., Lee, D. H., Marjoribanks, C., McDonough, D. P., et al. (2001) · Science · doi:10.1126/science.1065573 · Cited by 1,145
Metadata
- Authors
- Stephens, J. C., Schneider, J. A., Tanguay, D. A., Choi, J., Acharya, T., Stanley, S. E., Jiang, R., Messer, C. J., Chew, A., Han, J.-H., Duan, J., Carr, J. L., Lee, M. S., Koshy, B., Kumar, A. M., Zhang, G., Newell, W. R., Windemuth, A., Xu, C., Kalbfleisch, T. S., Shaner, S. L., Arnold, K., Schulz, V., Drysdale, C. M., Nandabalan, K., Judson, R. S., Ruaño, G., & Vovis, G. F.
- Venue
- Science
- Published
- 2001-07-20
- Volume
- 293
- Issue
- 5529
- Pages
- 489-493
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2122004833
- Cited by
- 873
- References
- 2
- FWCI
- 51.93
- Type
- journal article
- Language
- en
- Open access
- closed
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- Stephens, J. C., Schneider, J. A., Tanguay, D. A., Choi, J., Acharya, T., Stanley, S. E., Jiang, R., Messer, C. J., Chew, A., Han, J.-H., Duan, J., Carr, J. L., Lee, M. S., Koshy, B., Kumar, A. M., Zhang, G., Newell, W. R., Windemuth, A., Xu, C., . . . Vovis, G. F. (2001). Haplotype Variation and Linkage Disequilibrium in 313 Human Genes. Science. https://doi.org/10.1126/science.1059431
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