The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Cis-Acting Regulatory Variation in the Human Genome
Abstract
The systematic screening of the human genome for genetic variants that affect gene regulation should advance our fundamental understanding of phenotypic diversity and lead to the identification of alleles that modify disease risk. There are several challenges in localizing regulatory polymorphisms, including the wide spectrum of cis-acting regulatory mechanisms, the inconsistent effects of regulatory variants in different tissues, and the difficulty in isolating the causal variants that are in linkage disequilibrium with many other variants. We discuss the current state of knowledge and technologies used for mapping and characterizing genetic variation controlling human gene expression.
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Jaenisch, R., & Bird, A. (2003) · Nature Genetics · doi:10.1038/ng1089 · Cited by 6,325
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
Ueda, H., Howson, J. M. M., Esposito, L., Heward, J., Snook, Chamberlain, G., Rainbow, D. B., Hunter, K. M. D., Smith, A. N., Di Genova, G., et al. (2003) · Nature · doi:10.1038/nature01621 · Cited by 2,175
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Montgomery, S. B., Sammeth, M., Gutierrez-Arcelus, M., Lach, R. P., Ingle, C., Nisbett, J., Guigo, R., & Dermitzakis, E. T. (2010) · Nature · doi:10.1038/nature08903 · Cited by 797
Battle, A., Mostafavi, S., Zhu, X., Potash, J. B., Weissman, M. M., McCormick, C., Haudenschild, C. D., Beckman, K. B., Shi, J., Mei, R., et al. (2014) · Genome Research · doi:10.1101/gr.155192.113 · Cited by 547
Salvi, S., Sponza, G., Morgante, M., Tomes, D., Niu, X., Fengler, K. A., Meeley, R., Ananiev, E. V., Svitashev, S., Bruggemann, E., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0704145104 · Cited by 615
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Metadata
- Authors
- Pastinen, T., & Hudson, T. J.
- Venue
- Science
- Published
- 2004-10-22
- Volume
- 306
- Issue
- 5696
- Pages
- 647-650
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2046674864
- Cited by
- 265
- References
- 2
- FWCI
- 14.99
- Type
- journal article
- Language
- en
- Open access
- closed
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