The DOI matches its Crossref record.
Variations on a Theme: Cataloging Human DNA Sequence Variation
Abstract
New methods for the discovery and scoring of single-nucleotide polymorphisms (SNPs) offer the potential for considerably improved methods for genetic analysis of complex biological phenomena, particularly common diseases. In this Policy Forum, the authors call for a publicly supported effort to discover a large number of SNPs and to place the information in public databases. Participation in this public effort by the private sector would be particularly desirable.
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Citations
Cited by
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
Self-citationThe 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-citationThe 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
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature · doi:10.1038/35057149 · Cited by 2,977
Lohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S., & Hirschhorn, J. N. (2003) · Nature Genetics · doi:10.1038/ng1071 · Cited by 1,900
Metadata
- Authors
- Collins, F. S., Guyer, M. S., & Chakravarti, A.
- Venue
- Science
- Published
- 1997-11-28
- Volume
- 278
- Issue
- 5343
- Pages
- 1580-1581
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2074754379
- Cited by
- 1,050
- References
- 0
- FWCI
- 37.24
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Variations on a Theme: Cataloging Human DNA Sequence Variation. https://app.cochat.ai/papers/10.1126/science.278.5343.1580
- The paper
- Collins, F. S., Guyer, M. S., & Chakravarti, A. (1997). Variations on a Theme: Cataloging Human DNA Sequence Variation. Science. https://doi.org/10.1126/science.278.5343.1580
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
