Liang, Siqi, Tippens, Nathaniel D., Zhou, Yaoda, Mort, Matthew, Stenson, Peter D., Cooper, David Neil ![]() |
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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 chromatinchromatin 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.
Item Type: | Article |
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Date Type: | Published Online |
Status: | Published |
Schools: | Medicine |
Subjects: | Q Science > QH Natural history > QH426 Genetics |
Uncontrolled Keywords: | : iRegNet3D, Transcriptional regulation, TF-DNA interaction network, TF-TF interaction network, Chromatin interaction network, Inherited disease, Disease-associated mutation, Missense mutation, Non-coding mutation |
Publisher: | BioMed Central |
ISSN: | 1474-760X |
Date of First Compliant Deposit: | 31 January 2017 |
Date of Acceptance: | 16 December 2016 |
Last Modified: | 19 May 2024 18:47 |
URI: | https://orca.cardiff.ac.uk/id/eprint/97890 |
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