The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
Open accessAbstract
Extensive studies are currently being performed to associate disease susceptibility with one form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years, another type of common genetic variation has been characterized, namely, structural variation, including copy number variants (CNVs). To determine the overall contribution of CNVs to complex phenotypes, we have performed association analyses of expression levels of 14,925 transcripts with SNPs and CNVs in individuals who are part of the International HapMap project. SNPs and CNVs captured 83.6% and 17.7% of the total detected genetic variation in gene expression, respectively, but the signals from the two types of variation had little overlap. Interrogation of the genome for both types of variants may be an effective way to elucidate the causes of complex phenotypes and disease in humans.
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Cites
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Self-citationCommon deletion polymorphisms in the human genome
McCarroll, S. A., Hadnott, T. N., Perry, G. H., Sabeti, P. C., Zody, M. C., Barrett, J. C., Dallaire, S., Gabriel, S. B., Lee, C., Daly, M. J., et al. (2006) · Nature Genetics · doi:10.1038/ng1696 · Cited by 701
Self-citationDiabetes and obesity: the twin epidemics
Smyth, S., & Heron, A. (2006) · Nature Medicine · doi:10.1038/nm0106-75 · Cited by 643
The landscape of genetic complexity across 5,700 gene expression traits in yeast
Brem, R. B., & Kruglyak, L. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0408709102 · Cited by 603
Common deletions and SNPs are in linkage disequilibrium in the human genome
Hinds, D. A., Kloek, A. P., Jen, M., Chen, X., & Frazer, K. A. (2006) · Nature Genetics · doi:10.1038/ng1695 · Cited by 372
Cited by
Sequencing technologies – the next generation
Metzker, M. L. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2626 · Cited by 7,066
An integrated map of structural variation in 2,504 human genomes
Sudmant, P. H., Rausch, T., Gardner, E. J., Handsaker, R. E., Abyzov, A., Huddleston, J., Zhang, Y., Ye, K., Jun, G., Hsi-Yang Fritz, M., et al. (2015) · Nature · doi:10.1038/nature15394 · Cited by 2,354
Self-citationOrigins and functional impact of copy number variation in the human genome
The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970
Self-citationStructural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815
Self-citationMechanisms of change in gene copy number
Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2593 · Cited by 1,316
Metadata
- Authors
- Stranger, B. E., Forrest, M. S., Dunning, M., Ingle, C. E., Beazley, C., Thorne, N., Redon, R., Bird, C. P., de Grassi, A., Lee, C., Tyler-Smith, C., Carter, N., Scherer, S. W., Tavaré, S., Deloukas, P., Hurles, M. E., & Dermitzakis, E. T.
- Venue
- Science
- Published
- 2007-02-09
- Volume
- 315
- Issue
- 5813
- Pages
- 848-853
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2014606320
- Cited by
- 1,723
- References
- 5
- FWCI
- 86.24
- Type
- journal article
- Language
- en
- Open access
- green
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- Stranger, B. E., Forrest, M. S., Dunning, M., Ingle, C. E., Beazley, C., Thorne, N., Redon, R., Bird, C. P., de Grassi, A., Lee, C., Tyler-Smith, C., Carter, N., Scherer, S. W., Tavaré, S., Deloukas, P., Hurles, M. E., & Dermitzakis, E. T. (2007). Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes. Science. https://doi.org/10.1126/science.1136678
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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