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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 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: 25 Oct 2019 22:14
URI: http://orca.cf.ac.uk/id/eprint/97890

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