The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Genetical Genomics: Spotlight on QTL Hotspots
Open accessAbstract
Genetical genomics aims at identifying quantitative trait loci (QTLs) for molecular traits such as gene expression or protein levels (eQTL and pQTL, respectively). One of the central concepts in genetical genomics is the existence of hotspots [1], where a single polymorphism leads to widespread downstream changes in the expression of distant genes, which are all mapping to the same genomic locus. Several groups have hypothesized that many genetic polymorphisms—e.g., in major regulators or transcription factors—would lead to large and consistent biological effects that would be visible as eQTL hotspots.
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Citations
Cites
Hsp90 as a capacitor for morphological evolution
Rutherford, S. L., & Lindquist, S. (1998) · Nature · doi:10.1038/24550 · Cited by 2,270
Hsp90 as a capacitor of phenotypic variation
Queitsch, C., Sangster, T. A., & Lindquist, S. (2002) · Nature · doi:10.1038/nature749 · Cited by 1,372
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
Uncovering cryptic genetic variation
Gibson, G., & Dworkin, I. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1426 · Cited by 546 · cited 1×
“For example, it might well be that biological systems are so robust against subtle genetic perturbations that the majority of heritable gene expression variation is effectively ‘‘buffered’’ and does not lead to downstream effects on other genes, protein, metabolites, or phenotypes [14–17].”
Background
Cited by
Matrix eQTL: ultra fast eQTL analysis via large matrix operations
Shabalin, A. A. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts163 · Cited by 1,694
Systematic identification of trans eQTLs as putative drivers of known disease associations
Westra, H.-J., Peters, M. J., Esko, T., Yaghootkar, H., Schurmann, C., Kettunen, J., Christiansen, M. W., Fairfax, B. P., Schramm, K., Powell, J. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2756 · Cited by 1,658
Self-citationStegle, O., Parts, L., Piipari, M., Winn, J., & Durbin, R. (2012) · Nature Protocols · doi:10.1038/nprot.2011.457 · Cited by 1,049
Comparative analysis of proteome and transcriptome variation in mouse
Ghazalpour, A., Bennett, B., Petyuk, V. A., Orozco, L., Hagopian, R., Mungrue, I. N., Farber, C. R., Sinsheimer, J., Kang, H. M., Furlotte, N., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001393 · Cited by 624
“These results contrast to the previously published reports where hotspots containing hundreds or thousands of eQTLs were observed [30,31].”
ResultSystems genetics approaches to understand complex traits
Civelek, M., & Lusis, A. J. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3575 · Cited by 621
Metadata
- Authors
- Breitling, R., Li, Y., Tesson, B. M., Fu, J., Wu, C., Wiltshire, T., Gerrits, A., Bystrykh, L. V., de Haan, G., Su, A. I., & Jansen, R. C.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2008-10-24
- Volume
- 4
- Issue
- 10
- Pages
- e1000232
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W2169986196
- Cited by
- 195
- References
- 4
- FWCI
- 9.49
- Type
- journal article
- Language
- en
- Open access
- gold
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- Breitling, R., Li, Y., Tesson, B. M., Fu, J., Wu, C., Wiltshire, T., Gerrits, A., Bystrykh, L. V., de Haan, G., Su, A. I., & Jansen, R. C. (2008). Genetical Genomics: Spotlight on QTL Hotspots. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1000232
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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.
