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The ever-increasing use of ontologies in modern biological analysis and interpretation facilitates the understanding of the cellular procedures, their hierarchical organization, and their potential interactions at a system's level. Currently, the gene ontology serves as a paradigm, where through the annotation of whole genomes of certain organisms, genes subsets selected, either from high-throughput experiments or with an established pivotal role regarding the probed disease, can act as a starting point for the exploration of their underlying functional interconnections. This may also aid the elucidation of hidden regulatory mechanisms among genes. Reverse engineering the functional relevance of genes to specific cellular pathways and vice versa, through the exploitation of the inner structure of the ontological vocabularies, may help impart insight regarding the identification and prioritization of the critical role of specific genes. The proposed graph-theoretical method is showcased in a pancreatic cancer and a T-cell acute lymphoblastic leukemia gene set, incorporating edge and Resnik semantic similarity metrics, and systematically evaluated regarding its performance.

BackgroundThe KEGG Pathway database is a valuable collection of metabolic pathway maps. Nevertheless, the production of simulation capable metabolic networks from KEGG Pathway data is a challenging complicated work, regardless the already developed tools for this scope. Originally used for illustration purposes, KEGG Pathways through KGML (KEGG Markup Language) files, can provide complete reaction sets and introduce species versioning, which offers advantages for the scope of cellular metabolism simulation modelling. In this project, KEGGconverter is described, implemented also as a web-based application, which uses as source KGML files, in order to construct integrated pathway SBML models fully functional for simulation purposes.ResultsA case study of the integration of six human metabolic pathways from KEGG depicts the ability of KEGGconverter to automatically produce merged and converted to SBML fully functional pathway models, enhanced with default kinetics. The suitability of the developed tool is demonstrated through a comparison with other state-of-the art relevant software tools for the same data fusion and conversion tasks, thus illustrating the problems and the relevant workflows. Moreover, KEGGconverter permits the inclusion of additional reactions in the resulting model which represent flux cross-talk with neighbouring pathways, providing in this way improved simulative accuracy. These additional reactions are introduced by exploiting relevant semantic information for the elements of the KEGG Pathways database. The architecture and functionalities of the web-based application are presented.ConclusionKEGGconverter is capable of producing integrated analogues of metabolic pathways appropriate for simulation tasks, by inputting only KGML files. The web application acts as a user friendly shell which transparently enables the automated biochemically correct pathway merging, conversion to SBML format, proper renaming of the species, and insertion of default kinetic properties for the pertaining reactions. The tool is available at:

Introduction. According to WHO, "health policy refers to decisions, plans, and actions that are undertaken to achieve specific health care goals within a society". Although policymaking is important to be based on scientific evidence, in many countries, evidence-informed decision-making remains the exception rather than the rule. Aim: This work presents a cloud-based Decision Support System for public health decision-making. Methods: In Crowd-HEALTH, the concept of a Public Health Policy (PHP) is directly connected with one or more Key Performance Indexes (KPIs). The design and technical details of the system implementations are reported, along with use case scenarios. Results: The Policy Development Toolkit presents a unique interface and point of reference for policymakers, allowing them to create policy models and obtain analytical results for evidence-based decisions and evaluations. Conclusions: The hierarchical structure of the Public Health Policy Model offers versatility in the creation and handling of the policies, resulting in Health Analytics Tools Results Objects which offer quantitative policy support and provide the basis for meta-analytic operations.

In this work the effects of simple imputations are studied, regarding the integration of multimodal data originating from different patients. Two separate datasets of cutaneous melanoma are used, an image analysis (dermoscopy) dataset together with a transcriptomic one, specifically DNA microarrays. Each modality is related to a different set of patients, and four imputation methods are employed to the formation of a unified, integrative dataset. The application of backward selection together with ensemble classifiers (random forests), followed by principal components analysis and linear discriminant analysis, illustrates the implication of the imputations on feature selection and dimensionality reduction methods. The results suggest that the expansion of the feature space through the data integration, achieved by the exploitation of imputation schemes in general, aids the classification task, imparting stability as regards the derivation of putative classifiers. In particular, although the biased imputation methods increase significantly the predictive performance and the class discrimination of the datasets, they still contribute to the study of prominent features and their relations. The fusion of separate datasets, which provide a multimodal description of the same pathology, represents an innovative, promising avenue, enhancing robust composite biomarker derivation and promoting the interpretation of the biomedical problem studied.