iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations

Liang, Siqi, Tippens, Nathaniel D., Zhou, Yaoda, Mort, Matthew, Stenson, Peter D., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Yu, Haiyuan 2017. iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations. Genome Biology 18 (1) , 10. 10.1186/s13059-016-1138-2

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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
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:	18 May 2023 16:06
URI:	https://orca.cardiff.ac.uk/id/eprint/97890

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