Selected papers from the 14th Annual Bio-Ontologies Special Interest Group Meeting

Over the 14 years, the Bio-Ontologies SIG at ISMB has provided a forum for discussion of the latest and most innovative research in the bio-ontologies development, its applications to biomedicine and more generally the organisation, presentation and dissemination of knowledge in biomedicine and the life sciences. The seven papers selected for this supplement span a wide range of topics including: web-based querying over multiple ontologies, integration of data from wikis, innovative methods of annotating and mining electronic health records, advances in annotating web documents and biomedical literature, quality control of ontology alignments, and the ontology support for predictive models about toxicity and open access to the toxicity data

PubMed and beyond: a survey of web tools for searching biomedical literature

The past decade has witnessed the modern advances of high-throughput technology and rapid growth of research capacity in producing large-scale biological data, both of which were concomitant with an exponential growth of biomedical literature. This wealth of scholarly knowledge is of significant importance for researchers in making scientific discoveries and healthcare professionals in managing health-related matters. However, the acquisition of such information is becoming increasingly difficult due to its large volume and rapid growth. In response, the National Center for Biotechnology Information (NCBI) is continuously making changes to its PubMed Web service for improvement. Meanwhile, different entities have devoted themselves to developing Web tools for helping users quickly and efficiently search and retrieve relevant publications. These practices, together with maturity in the field of text mining, have led to an increase in the number and quality of various Web tools that provide comparable literature search service to PubMed. In this study, we review 28 such tools, highlight their respective innovations, compare them to the PubMed system and one another, and discuss directions for future development. Furthermore, we have built a website dedicated to tracking existing systems and future advances in the field of biomedical literature search. Taken together, our work serves information seekers in choosing tools for their needs and service providers and developers in keeping current in the field

Do peers see more in a paper than its authors?

Recent years have shown a gradual shift in the content of biomedical publications that is freely accessible, from titles and abstracts to full text. This has enabled new forms of automatic text analysis and has given rise to some interesting questions: How informative is the abstract compared to the full-text? What important information in the full-text is not present in the abstract? What should a good summary contain that is not already in the abstract? Do authors and peers see an article differently? We answer these questions by comparing the information content of the abstract to that in citances-sentences containing citations to that article. We contrast the important points of an article as judged by its authors versus as seen by peers. Focusing on the area of molecular interactions, we perform manual and automatic analysis, and we find that the set of all citances to a target article not only covers most information (entities, functions, experimental methods, and other biological concepts) found in its abstract, but also contains 20% more concepts. We further present a detailed summary of the differences across information types, and we examine the effects other citations and time have on the content of citances

A novel deep mining model for effective knowledge discovery from omics data

Knowledge discovery from omics data has become a common goal of current approaches to personalised cancer medicine and understanding cancer genotype and phenotype. However, high-throughput biomedical datasets are characterised by high dimensionality and relatively small sample sizes with small signal-to-noise ratios. Extracting and interpreting relevant knowledge from such complex datasets therefore remains a significant challenge for the fields of machine learning and data mining. In this paper, we exploit recent advances in deep learning to mitigate against these limitations on the basis of automatically capturing enough of the meaningful abstractions latent with the available biological samples. Our deep feature learning model is proposed based on a set of non-linear sparse Auto-Encoders that are deliberately constructed in an under-complete manner to detect a small proportion of molecules that can recover a large proportion of variations underlying the data. However, since multiple projections are applied to the input signals, it is hard to interpret which phenotypes were responsible for deriving such predictions. Therefore, we also introduce a novel weight interpretation technique that helps to deconstruct the internal state of such deep learning models to reveal key determinants underlying its latent representations. The outcomes of our experiment provide strong evidence that the proposed deep mining model is able to discover robust biomarkers that are positively and negatively associated with cancers of interest. Since our deep mining model is problem-independent and data-driven, it provides further potential for this research to extend beyond its cognate disciplines

Nanoinformatics: developing new computing applications for nanomedicine

Nanoinformatics has recently emerged to address the need of computing applications at the nano level. In this regard, the authors have participated in various initiatives to identify its concepts, foundations and challenges. While nanomaterials open up the possibility for developing new devices in many industrial and scientific areas, they also offer breakthrough perspectives for the prevention, diagnosis and treatment of diseases. In this paper, we analyze the different aspects of nanoinformatics and suggest five research topics to help catalyze new research and development in the area, particularly focused on nanomedicine. We also encompass the use of informatics to further the biological and clinical applications of basic research in nanoscience and nanotechnology, and the related concept of an extended ?nanotype? to coalesce information related to nanoparticles. We suggest how nanoinformatics could accelerate developments in nanomedicine, similarly to what happened with the Human Genome and other -omics projects, on issues like exchanging modeling and simulation methods and tools, linking toxicity information to clinical and personal databases or developing new approaches for scientific ontologies, among many others

What's unusual in online disease outbreak news?

Background: Accurate and timely detection of public health events of international concern is necessary to help support risk assessment and response and save lives. Novel event-based methods that use the World Wide Web as a signal source offer potential to extend health surveillance into areas where traditional indicator networks are lacking. In this paper we address the issue of systematically evaluating online health news to support automatic alerting using daily disease-country counts text mined from real world data using BioCaster. For 18 data sets produced by BioCaster, we compare 5 aberration detection algorithms (EARS C2, C3, W2, F-statistic and EWMA) for performance against expert moderated ProMED-mail postings. Results: We report sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), mean alerts/100 days and F1, at 95% confidence interval (CI) for 287 ProMED-mail postings on 18 outbreaks across 14 countries over a 366 day period. Results indicate that W2 had the best F1 with a slight benefit for day of week effect over C2. In drill down analysis we indicate issues arising from the granular choice of country-level modeling, sudden drops in reporting due to day of week effects and reporting bias. Automatic alerting has been implemented in BioCaster available from http://born.nii.ac.jp. Conclusions: Online health news alerts have the potential to enhance manual analytical methods by increasing throughput, timeliness and detection rates. Systematic evaluation of health news aberrations is necessary to push forward our understanding of the complex relationship between news report volumes and case numbers and to select the best performing features and algorithms