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Bioinformatics analysis of epigenetic variants associated with melanoma

The field of cancer genomics is currently being enhanced by the power of
Epigenome-wide association studies (EWAS). Over the last couple of years
comprehensive sequence data sets have been generated, allowing analysis
of genome-wide activity in cohorts of different individuals to be increasingly
available. Finding associations between epigenetic variation and phenotype
is one of the biggest challenges in biomedical research. Laboratories lacking
dedicated resources and programming experience require bioinformatics
expertise which can be prohibitively costly and time-consuming. To address
this, we have developed a collection of freely available Galaxy tools
(Poterlowicz, 2018a), combining analytical methods into a range of convenient
analysis pipelines with graphical user-friendly interface.The tool suite
includes methods for data preprocessing, quality assessment and differentially
methylated region and position discovery. The aim of this project was to
make EWAS analysis flexible and accessible to everyone and compatible with
routine clinical and biological use. This is exemplified by my work undertaken
by integrating DNA methylation profiles of melanoma patients (at baseline and
mitogen-activated protein kinase inhibitor MAPKi treatment) to identify novel
epigenetic switches responsible for tumour resistance to therapy (Hugo et
al., 2015). Configuration files are publicly published on our GitHub repository
(Poterlowicz, 2018b) with scripts and dependency settings also available to
download and install via Galaxy test toolshed (Poterlowicz, 2018a). Results
and experiences using this framework demonstrate the potential for Galaxy to
be a bioinformatics solution for multi-omics cancer biomarker discovery tool.

Identiferoai:union.ndltd.org:BRADFORD/oai:bradscholars.brad.ac.uk:10454/17220
Date January 2018
CreatorsMurat, Katarzyna
ContributorsPoterlowicz, Krzysztof
PublisherUniversity of Bradford, Department of Chemistry and Biosciences
Source SetsBradford Scholars
LanguageEnglish
Detected LanguageEnglish
TypeThesis, research masters, MPhil
Rights<a rel="license" href="http://creativecommons.org/licenses/by-nc-nd/3.0/"><img alt="Creative Commons License" style="border-width:0" src="http://i.creativecommons.org/l/by-nc-nd/3.0/88x31.png" /></a><br />The University of Bradford theses are licenced under a <a rel="license" href="http://creativecommons.org/licenses/by-nc-nd/3.0/">Creative Commons Licence</a>.

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