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A Novel Approach to Detecting Epistasis using Random Sampling Regularisation

Hind, J, Lisboa, P, Hussain, A and Al-Jumeily, D (2019) A Novel Approach to Detecting Epistasis using Random Sampling Regularisation. IEEE/ACM Transactions on Computational Biology and Bioinformatics, 17 (5). ISSN 1545-5963

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Epistasis is a progressive approach that complements the ‘common disease, common variant’ hypothesis that highlights the potential for connected networks of genetic variants collaborating to produce a phenotypic expression. Epistasis is commonly performed as a pairwise or limitless-arity capacity that considers variant networks as either variant vs variant or as high order interactions. This type of analysis extends the number of tests that were previously performed in a standard approach such as Genome-Wide Association Study (GWAS), in which False Discovery Rate (FDR) is already an issue, therefore by multiplying the number of tests up to a factorial rate also increases the issue of FDR. Further to this, epistasis introduces its own limitations of computational complexity and intensity that are generated based on the analysis performed; to consider the most intense approach, a multivariate analysis introduces a time complexity of O(n!). Proposed in this paper is a novel methodology for the detection of epistasis using interpretable methods and best practice to outline interactions through filtering processes. Using a process of Random Sampling Regularisation which randomly splits and produces sample sets to conduct a voting system to regularise the significance and reliability of biological markers, SNPs. Preliminary results are promising, outlining a concise detection of interactions. Results for the detection of epistasis, in the classification of breast cancer patients, indicated eight outlined risk candidate interactions from five variants and a singular candidate variant with high protective association.

Item Type: Article
Additional Information: © 2019 IEEE. Personal use of this material is permitted. Permission from IEEE must be obtained for all other uses, in any current or future media, including reprinting/republishing this material for advertising or promotional purposes, creating new collective works, for resale or redistribution to servers or lists, or reuse of any copyrighted component of this work in other works.
Subjects: Q Science > QA Mathematics > QA75 Electronic computers. Computer science
Divisions: Computer Science & Mathematics
Publisher: Institute of Electrical and Electronics Engineers
Date Deposited: 19 Jul 2019 10:25
Last Modified: 01 Jul 2022 11:15
DOI or ID number: 10.1109/TCBB.2019.2948330
URI: https://researchonline.ljmu.ac.uk/id/eprint/11078
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