Tissue-specific regulatory circuits reveal variable modular perturbations across complex diseases
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Author(s)
Marbach, Daniel
Lamparter, David
Quon, Gerald
Kellis, Manolis
Kutalik, Zoltán
Bergmann, Sven
Date Issued
March 2016
Journal
Nature Methods
Publisher
Nature Publishing Group
Citation
Marbach, Daniel et al. “Tissue-Specific Regulatory Circuits Reveal Variable Modular Perturbations Across Complex Diseases.” Nature Methods 13, 4 (March 2016): 366–370 © 2016 Nature America, Inc
Version
Author's final manuscript
Abstract
Mapping perturbed molecular circuits that underlie complex diseases remains a great challenge. We developed a comprehensive resource of 394 cell type– and tissue-specific gene regulatory networks for human, each specifying the genome-wide connectivity among transcription factors, enhancers, promoters and genes. Integration with 37 genome-wide association studies (GWASs) showed that disease-associated genetic variants—including variants that do not reach genome-wide significance—often perturb regulatory modules that are highly specific to disease-relevant cell types or tissues. Our resource opens the door to systematic analysis of regulatory programs across hundreds of human cell types and tissues
MIT Department
Broad Institute of MIT and Harvard
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
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Article is made available in accordance with the publisher's policy and may be subject to US copyright law. Please refer to the publisher's site for terms of use.
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DOI of Published Version
https://doi.org/10.1038/nmeth.3799
