The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1.
Open accessAbstract
perform association analysis on many affected and unaffected individuals, which would require hundreds of thousands of variants spread over the entire genome (Risch and Merikangas 1996). Such a large number of variants is currently not available. The DNA Polymorphism Discovery Resource is designed to promote their discovery. About 90% of sequence variants in humans are differences in single bases of DNA, called single nucleotide polymorphisms (SNPs). SNPs in the coding regions of genes (cSNPs) or in regulatory regions are more likely to cause functional differences than SNPs elsewhere. Although most SNPs do not affect gene function, a large number of mapped SNPs will be valuable as markers throughout the genome for finding SNPs that do affect gene function, as linkage disequilibrium over tens to hundreds of kilobases is expected to be found in many regions of the human genome. Both SNPs and cSNPs can be identified by using the DNA Polymorphism Discovery Resource. When two random chromosomes are
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Identification of the Cystic Fibrosis Gene: Genetic Analysis
Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989) · Science · doi:10.1126/science.2570460 · Cited by 4,142
Self-citationEstimating African American Admixture Proportions by Use of Population-Specific Alleles
Parra, E. J., Marcini, A., Akey, J., Martinson, J., Batzer, M. A., Cooper, R., Forrester, T., Allison, D. B., Deka, R., Ferrell, R. E., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/302148 · Cited by 771 · cited 1×
“The second column shows current estimates of the average amounts of admixture for the groups sampled: African admixture for the European– Americans, Native American and African admixture for the Mexican– Americans, and European admixture for the other groups (Hanis et al. 1991; Parra et al. 1998).”
Background
Cited by
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Self-citationBrookes, A. J. (1999) · Gene · doi:10.1016/s0378-1119(99)00219-x · Cited by 1,377
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
An RNA gene expressed during cortical development evolved rapidly in humans
Pollard, K. S., Salama, S. R., Lambert, N., Lambot, M.-A., Coppens, S., Pedersen, J. S., Katzman, S., King, B., Onodera, C., Siepel, A., et al. (2006) · Nature · doi:10.1038/nature05113 · Cited by 1,005
dbSNP—database for single nucleotide polymorphisms and other classes of minor genetic variation
Sherry, S. T., Ward, M., & Sirotkin, K. (1999) · Genome Research · doi:10.1101/gr.9.8.677 · Cited by 789
Metadata
- Authors
- Collins, F. S., Brooks, L. D., & Chakravarti, A.
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 1998-12-01
- Volume
- 8
- Issue
- 12
- Pages
- 1229-1231
- ISSN
- 1088-9051 (ISSN-L)
- 1549-5469
- OpenAlex
- W2153127576
- Cited by
- 824
- References
- 2
- Type
- posted content
- Language
- en
- Open access
- hybrid
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- Collins, F. S., Brooks, L. D., & Chakravarti, A. (1998). A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1. Genome Research. https://doi.org/10.1101/gr.8.12.1229
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