IADIS International Journal on Computer Science and Information Systems

Published by IADIS (International Association for Development of the Information Society) • ISSN (Online): 1646-3692 • ISSN (Print): 1646-3692
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Continuous-time Hidden Markov Models for the Copy Number Analysis of Genotyping Arrays

Matthew Kowgier *
Rafal Kustra. Dalla Lana School of Public Health *
University of Toronto *
* Toronto Canada. (Portugal)
* Toronto Canada. (Portugal)
* Toronto Canada. (Portugal)

Abstract

We present a novel Hidden Markov Model for detecting copy number variations (CNV) from genotyping arrays. Our model is a novel application of HMM to inferring CNVs from genotyping arrays: it assumes a continuous-time framework and is informed by prior findings from previously analyzed real data. This framework is also more realistic than discrete-time models which are currently used since it does not assume that CNV breakpoints occur at the genotyped loci. We show how to estimate the model parameters using a training data of normal samples whose CNV regions have been confirmed, and present results from applying the model to a set of HapMap samples containing aberrant SNPs.

Keywords

Hidden Markov Models; Copy Number Variation; Markov Chain Monte Carlo; SNP genotyping arrays.
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Declarations & Ethics

Funding: This research received academic dissemination support through ESCAP / JournalsHub publishing programs.
Conflicts of Interest: The authors declare no competing financial or institutional interests.
Peer Review: Double-blind peer reviewed by international subject specialists.
License: Creative Commons Attribution 4.0 International (CC BY 4.0).
How to Cite This Article
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Kowgier, et al. (2010). Continuous-time Hidden Markov Models for the Copy Number Analysis of Genotyping Arrays. IADIS International Journal on Computer Science and Information Systems, 5(1). https://doi.org/10.33965/ijcsis_2010_v5i1_09
Kowgier, et al. "Continuous-time Hidden Markov Models for the Copy Number Analysis of Genotyping Arrays." IADIS International Journal on Computer Science and Information Systems, vol. 5, no. 1, 2010. https://doi.org/10.33965/ijcsis_2010_v5i1_09
Kowgier, et al. "Continuous-time Hidden Markov Models for the Copy Number Analysis of Genotyping Arrays." IADIS International Journal on Computer Science and Information Systems 5, no. 1 (2010). https://doi.org/10.33965/ijcsis_2010_v5i1_09