Abstract
The mechanistic details of most disease-causing mutations remain poorly explored within the context of regulatory networks. We present a high-resolution three-dimensional integrated regulatory network (iRegNet3D) in the form of a web tool, where we resolve the interfaces of all known transcription factor (TF)-TF, TF-DNA and chromatin-chromatin interactions for the analysis of both coding and non-coding disease-associated mutations to obtain mechanistic insights into their functional impact. Using iRegNet3D, we find that disease-associated mutations may perturb the regulatory network through diverse mechanisms including chromatin looping. iRegNet3D promises to be an indispensable tool in large-scale sequencing and disease association studies.
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Liang, S., Tippens, N. D., Zhou, Y., Mort, M., Stenson, P. D., Cooper, D. N., & Yu, H. (2017). iRegNet3D: Three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. Genome Biology, 18(1). https://doi.org/10.1186/s13059-016-1138-2
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