The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Common Regulatory Variation Impacts Gene Expression in a Cell Type–Dependent Manner
Open accessAbstract
Tissue-Specific Control: The effect of genetic variation on gene expression and phenotype among individuals is largely unknown. Dimas et al. (p. 1246 , published online 30 July 2009) show that in humans there are several genes whose allelic expression varies in a tissue-specific manner and are apparently controlled by cis elements. Up to 80% of variants seem to have tissue-specific functions when compared in fibroblasts, as well as B cells and T cells. This variation among regulatory variants correlated with transcript complexity, which suggests that some of the observed regulatory variation is due to genotype-specific use of transcripts and transcription start sites.
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Cites
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Statistical significance for genomewide studies
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The ENCODE Project Consortium (2007) · Nature · doi:10.1038/nature05874 · Cited by 5,223
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The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438
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
Why Most Discovered True Associations Are Inflated
Ioannidis, J. P. A. (2008) · Epidemiology · doi:10.1097/ede.0b013e31818131e7 · Cited by 1,495
Genetics of gene expression and its effect on disease
Emilsson, V., Thorleifsson, G., Zhang, B., Leonardson, A. S., Zink, F., Zhu, J., Carlson, S., Helgason, A., Walters, G. B., Gunnarsdottir, S., et al. (2008) · Nature · doi:10.1038/nature06758 · Cited by 1,296
High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation
Veyrieras, J.-B., Kudaravalli, S., Kim, S. Y., Dermitzakis, E. T., Gilad, Y., Stephens, M., & Pritchard, J. K. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000214 · Cited by 536
Self-citationLarge Upward Bias in Estimation of Locus-Specific Effects from Genomewide Scans
Göring, H. H. H., Terwilliger, J. D., & Blangero, J. (2001) · The American Journal of Human Genetics · doi:10.1086/324471 · Cited by 483
A survey of genetic human cortical gene expression
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Cited by
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science · doi:10.1126/science.1262110 · Cited by 5,062
Self-citationGiambartolomei, C., Vukcevic, D., Schadt, E. E., Franke, L., Hingorani, A. D., Wallace, C., & Plagnol, V. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004383 · Cited by 4,261
Annotation of functional variation in personal genomes using RegulomeDB
Boyle, A. P., Hong, E. L., Hariharan, M., Cheng, Y., Schaub, M. A., Kasowski, M., Karczewski, K. J., Park, J., Hitz, B. C., Weng, S., et al. (2012) · Genome Research · doi:10.1101/gr.137323.112 · Cited by 2,722
Integrative approaches for large-scale transcriptome-wide association studies
Gusev, A., Ko, A., Shi, H., Bhatia, G., Chung, W., Penninx, B. W. J. H., Jansen, R., de Geus, E. J. C., Boomsma, D. I., Wright, F. A., et al. (2016) · Nature Genetics · doi:10.1038/ng.3506 · Cited by 2,479
Visscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.029 · Cited by 2,425
Metadata
- Authors
- Dimas, A. S., Deutsch, S., Stranger, B. E., Montgomery, S. B., Borel, C., Attar-Cohen, H., Ingle, C., Beazley, C., Arcelus, M. G., Sekowska, M., Gagnebin, M., Nisbett, J., Deloukas, P., Dermitzakis, E. T., & Antonarakis, S. E.
- Venue
- Science
- Published
- 2009-09-04
- Volume
- 325
- Issue
- 5945
- Pages
- 1246-1250
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2069298307
- Cited by
- 745
- References
- 10
- FWCI
- 38.67
- Type
- journal article
- Language
- en
- Open access
- green
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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.
