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dc.contributor.authorPezoulas, V. C.
dc.contributor.authorHazapis, O.
dc.contributor.authorLagopati, N.
dc.contributor.authorExarchos, T. P.
dc.contributor.authorGoules, A. V.
dc.contributor.authorTzioufas, A. G.
dc.contributor.authorFotiadis, D. I.
dc.contributor.authorStratis, I. G.
dc.contributor.authorYannacopoulos, A. N.
dc.contributor.authorGorgoulis, Vassilis G
dc.date.accessioned2021-09-30T11:56:14Z
dc.date.available2021-09-30T11:56:14Z
dc.date.issued2021en
dc.identifier.citationPEZOULAS VC, HAZAPIS O, LAGOPATI N, EXARCHOS TP, GOULES AV, TZIOUFAS AG, et al. Machine Learning Approaches on High Throughput NGS Data to Unveil Mechanisms of Function in Biology and Disease. Cancer Genomics Proteomics. 2021;18(5):605–26.en
dc.identifier.pmid34479914en
dc.identifier.doi10.21873/cgp.20284en
dc.identifier.urihttp://hdl.handle.net/10541/624648
dc.description.abstractIn this review, the fundamental basis of machine learning (ML) and data mining (DM) are summarized together with the techniques for distilling knowledge from state-of-the-art omics experiments. This includes an introduction to the basic mathematical principles of unsupervised/supervised learning methods, dimensionality reduction techniques, deep neural networks architectures and the applications of these in bioinformatics. Several case studies under evaluation mainly involve next generation sequencing (NGS) experiments, like deciphering gene expression from total and single cell (scRNA-seq) analysis; for the latter, a description of all recent artificial intelligence (AI) methods for the investigation of cell sub-types, biomarkers and imputation techniques are described. Other areas of interest where various ML schemes have been investigated are for providing information regarding transcription factors (TF) binding sites, chromatin organization patterns and RNA binding proteins (RBPs), while analyses on RNA sequence and structure as well as 3D dimensional protein structure predictions with the use of ML are described. Furthermore, we summarize the recent methods of using ML in clinical oncology, when taking into consideration the current omics data with pharmacogenomics to determine personalized treatments. With this review we wish to provide the scientific community with a thorough investigation of main novel ML applications which take into consideration the latest achievements in genomics, thus, unraveling the fundamental mechanisms of biology towards the understanding and cure of diseases.en
dc.language.isoenen
dc.relation.urlhttps://dx.doi.org/10.21873/cgp.20284en
dc.titleMachine learning approaches on high throughput NGS data to unveil mechanisms of function in biology and diseaseen
dc.typeArticleen
dc.contributor.departmentUnit of Medical Technology and Intelligent Information Systems, University of Ioannina, Ioannina, Greeceen
dc.identifier.journalCancer Genomics Proteomicsen
dc.description.noteen]
refterms.dateFOA2021-10-13T07:50:20Z


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