Journal of Integrative Bioinformatics最新文献

Diagnosing diabetes early is critical as it helps patients live with the disease in a healthy way - through healthy eating, taking appropriate medical doses, and making patients more vigilant in their movements/activities to avoid wounds that are difficult to heal for diabetic patients. Data mining techniques are typically used to detect diabetes with high confidence to avoid misdiagnoses with other chronic diseases whose symptoms are similar to diabetes. Hidden Naïve Bayes is one of the algorithms for classification, which works under a data-mining model based on the assumption of conditional independence of the traditional Naïve Bayes. The results from this research study, which was conducted on the Pima Indian Diabetes (PID) dataset collection, show that the prediction accuracy of the HNB classifier achieved 82%. As a result, the discretization method increases the performance and accuracy of the HNB classifier.

Systems biology researchers need feasible solutions for editing and visualisation of large biological diagrams. Here, we present the ySBGN bidirectional converter that translates metabolic pathways, developed in the general-purpose yEd Graph Editor (using the GraphML format) into the Systems Biology Graphical Notation Markup Language (SBGN-ML) standard format and vice versa. We illustrate the functionality of this converter by applying it to the translation of the ReconMap resource (available in the SBGN-ML format) to the yEd-specific GraphML and back. The ySBGN tool makes possible to draw extensive metabolic diagrams in a powerful general-purpose graph editor while providing results in the standard SBGN format.

Biomolecular networks, including genome-scale metabolic models (GSMMs), assemble the knowledge regarding the biological processes that happen inside specific organisms in a way that allows for analysis, simulation, and exploration. With the increasing availability of genome annotations and the development of powerful reconstruction tools, biomolecular networks continue to grow ever larger. While visual exploration can facilitate the understanding of such networks, the network sizes represent a major challenge for current visualisation systems. Building on promising results from the area of immersive analytics, which among others deals with the potential of immersive visualisation for data analysis, we present a concept for a hybrid user interface that combines a classical desktop environment with a virtual reality environment for the visual exploration of large biomolecular networks and corresponding data. We present system requirements and design considerations, describe a resulting concept, an envisioned technical realisation, and a systems biology usage scenario. Finally, we discuss remaining challenges.

This paper describes the design philosophy for our cloud-based virtual reality (VR) co-creation environment (CCE) for molecular modeling. Using interactive VR simulation can provide enhanced perspectives in molecular modeling for intuitive live demonstration and experimentation in the CCE. Then the use of the CCE can enhance knowledge creation by bringing people together to share and create ideas or knowledge that may not emerge otherwise. Our prototype CCE discussed here, which was developed to demonstrate our design philosophy, has already enabled multiple members to log in and touch virtual molecules running on a cloud server with no noticeable network latency via real-time artificial intelligence techniques. The CCE plays an essential role in the rational design of molecular robot parts, which consist of bio-molecules such as DNA and protein molecules.

Parkinson's disease is considered the second most frequent neurodegenerative disease. It is described by the loss of dopaminergic neurons in the mid-brain. For many decades, L-DOPA has been considered as the gold standard for treating Parkinson's disease motor symptoms, however, due to the decrease of efficacy, in the long run, there is an urgent need for novel antiparkinsonian drugs. Caffeine derivatives have been reported several times for their neuroprotective properties and dual blockade of monoamine oxidase (MAO) and adenosine A_2A receptors (AA_2AR). Natural products are currently attracting more focus due to structural diversity and safety in contrast to synthetic drugs. In the present work, computational studies were conducted on natural product-like caffeine derivatives to search for novel potent candidates acting as dual MAO-B inhibitors/AA_2AR antagonists for Parkinson's disease. Our findings revealed two natural products among the top hits: CNP0202316 and CNP0365210 fulfill the requirements of drugs acting on the brain. The selected lead compounds were further studied using molecular dynamics simulation to assess their stability with MAO-B. Current findings might shift the interest towards natural-based compounds and could be exploited to further optimize caffeine derivatives into a successful dual-target-directed drug for managing and halting the neuronal damage in Parkinson's disease patients.

Core facilities have to offer technologies that best serve the needs of their users and provide them a competitive advantage in research. They have to set up and maintain instruments in the range of ten to a hundred, which produce large amounts of data and serve thousands of active projects and customers. Particular emphasis has to be given to the reproducibility of the results. More and more, the entire process from building the research hypothesis, conducting the experiments, doing the measurements, through the data explorations and analysis is solely driven by very few experts in various scientific fields. Still, the ability to perform the entire data exploration in real-time on a personal computer is often hampered by the heterogeneity of software, the data structure formats of the output, and the enormous data sizes. These impact the design and architecture of the implemented software stack. At the Functional Genomics Center Zurich (FGCZ), a joint state-of-the-art research and training facility of ETH Zurich and the University of Zurich, we have developed the B-Fabric system, which has served for more than a decade, an entire life sciences community with fundamental data science support. In this paper, we sketch how such a system can be used to glue together data (including metadata), computing infrastructures (clusters and clouds), and visualization software to support instant data exploration and visual analysis. We illustrate our in-daily life implemented approach using visualization applications of mass spectrometry data.

The implementation of Artificial Intelligence (AI) still faces significant hurdles and one key factor is the access to data. One approach that could support that is federated machine learning (FL) since it allows for privacy preserving data access. For this proof of concept, a prediction model for coronary artery calcification scores (CACS) has been applied. The FL was trained based on the data in the different institutions, while the centralized machine learning model was trained on one allocation of data. Both algorithms predict patients with risk scores ≥5 based on age, biological sex, waist circumference, dyslipidemia and HbA1c. The centralized model yields a sensitivity of c. 66% and a specificity of c. 70%. The FL slightly outperforms that with a sensitivity of 67% while slightly underperforming it with a specificity of 69%. It could be demonstrated that CACS prediction is feasible via both, a centralized and an FL approach, and that both show very comparable accuracy. In order to increase accuracy, additional and a higher volume of patient data is required and for that FL is utterly necessary. The developed "CACulator" serves as proof of concept, is available as research tool and shall support future research to facilitate AI implementation.

Over the last years it has been observed that the progress in data collection in life science has created increasing demand and opportunities for advanced bioinformatics. This includes data management as well as the individual data analysis and often covers the entire data life cycle. A variety of tools have been developed to store, share, or reuse the data produced in the different domains such as genotyping. Especially imputation, as a subfield of genotyping, requires good Research Data Management (RDM) strategies to enable use and re-use of genotypic data. To aim for sustainable software, it is necessary to develop tools and surrounding ecosystems, which are reusable and maintainable. Reusability in the context of streamlined tools can e.g. be achieved by standardizing the input and output of the different tools and adapting to open and broadly used file formats. By using such established file formats, the tools can also be connected with others, improving the overall interoperability of the software. Finally, it is important to build strong communities that maintain the tools by developing and contributing new features and maintenance updates. In this article, concepts for this will be presented for an imputation service.

Genome-scale metabolic models (GEMs) are essential tools for in silico phenotype prediction and strain optimisation. The most straightforward GEMs reconstruction approach uses published models as templates to generate the initial draft, requiring further curation. Such an approach is used by BiGG Integration Tool (BIT), available for merlin users. This tool uses models from BiGG Models database as templates for the draft models. Moreover, BIT allows the selection between different template combinations. The main objective of this study is to assess the draft models generated using this tool and compare them BIT, comparing these to CarveMe models, both of which use the BiGG database, and curated models. For this, three organisms were selected, namely Streptococcus thermophilus, Xylella fastidiosa and Mycobacterium tuberculosis. The models' variability was assessed using reactions and genes' metabolic functions. This study concluded that models generated with BIT for each organism were differentiated, despite sharing a significant portion of metabolic functions. Furthermore, the template seems to influence the content of the models, though to a lower extent. When comparing each draft with curated models, BIT had better performances than CarveMe in all metrics. Hence, BIT can be considered a fast and reliable alternative for draft reconstruction for bacteria models.

Tinnitus is an annoying ringing in the ears, in varying shades and intensities. Tinnitus can affect a person's overall health and social well-being (e.g., sleep problems, trouble concentrating, anxiety, depression and inability to work). The diagnostic procedure of tinnitus usually consists of three steps: an audiological examination, psychoacoustic measurement, and a disability evaluation. All steps are performed by physicians, who use specialised hardware/software and administer questionnaires. This paper presents a system, to be used by patients, for the diagnosis and self-management of tinnitus. The system is made up of an app and a device. The app is responsible for executing - through the device - a part of the required audiological and psychoacoustic examinations, as well as administering questionnaires that evaluate disability. The paper reviews the quality of the automated audiometric reporting and the user experience provided by the app. Descriptive and inferential statistics were used to support the findings. The results show that automated reporting is comparable with that of physicians and that user experience was improved by re-designing and re-developing the acufenometry of the app. As for the user experience, two experts in Human-Computer Interaction evaluated the first version of the app: their agreement was good (Cohen's K = 0.639) and the average rating of the app was 1.43/2. Also patients evaluated the app in its initial version: the satisfactory tasks (audiometry and questionnaires) were rated as 4.31/5 and 4.65/5. The unsatisfactory task (acufenometry) was improved and the average rating increased from 2.86/5 to 3.96/5 (p = 0.0005). Finally, the general usability of the app was increased from the initial value of 73.6/100 to 85.4/100 (p = 0.0003). The strengths of the project are twofold. Firstly, the automated reporting feature, which - to the best of our knowledge - is the first attempt in this area. Secondly, the overall app usability, which was evaluated and improved during its development. In summary, the conclusion drawn from the conducted project is that the system works as expected, and despite some weaknesses, also the replication of the device would not be expensive, and it can be used in different scenarios.