A Query Integrator and Manager for the Query Web

We introduce two concepts: the Query Web as a layer of interconnected queries over the document web and the semantic web, and a Query Web Integrator and Manager (QI) that enables the Query Web to evolve. QI permits users to write, save and reuse queries over any web accessible source, including other queries saved in other installations of QI. The saved queries may be in any language (e.g. SPARQL, XQuery); the only condition for interconnection is that the queries return their results in some form of XML. This condition allows queries to chain off each other, and to be written in whatever language is appropriate for the task. We illustrate the potential use of QI for several biomedical use cases, including ontology view generation using a combination of graph-based and logical approaches, value set generation for clinical data management, image annotation using terminology obtained from an ontology web service, ontology-driven brain imaging data integration, small-scale clinical data integration, and wider-scale clinical data integration. Such use cases illustrate the current range of applications of QI and lead us to speculate about the potential evolution from smaller groups of interconnected queries into a larger query network that layers over the document and semantic web. The resulting Query Web could greatly aid researchers and others who now have to manually navigate through multiple information sources in order to answer specific questions

A Learning Health System for Radiation Oncology

The proposed research aims to address the challenges faced by clinical data science researchers in radiation oncology accessing, integrating, and analyzing heterogeneous data from various sources. The research presents a scalable intelligent infrastructure, called the Health Information Gateway and Exchange (HINGE), which captures and structures data from multiple sources into a knowledge base with semantically interlinked entities. This infrastructure enables researchers to mine novel associations and gather relevant knowledge for personalized clinical outcomes. The dissertation discusses the design framework and implementation of HINGE, which abstracts structured data from treatment planning systems, treatment management systems, and electronic health records. It utilizes disease-specific smart templates for capturing clinical information in a discrete manner. HINGE performs data extraction, aggregation, and quality and outcome assessment functions automatically, connecting seamlessly with local IT/medical infrastructure. Furthermore, the research presents a knowledge graph-based approach to map radiotherapy data to an ontology-based data repository using FAIR (Findable, Accessible, Interoperable, Reusable) concepts. This approach ensures that the data is easily discoverable and accessible for clinical decision support systems. The dissertation explores the ETL (Extract, Transform, Load) process, data model frameworks, ontologies, and provides a real-world clinical use case for this data mapping. To improve the efficiency of retrieving information from large clinical datasets, a search engine based on ontology-based keyword searching and synonym-based term matching tool was developed. The hierarchical nature of ontologies is leveraged to retrieve patient records based on parent and children classes. Additionally, patient similarity analysis is conducted using vector embedding models (Word2Vec, Doc2Vec, GloVe, and FastText) to identify similar patients based on text corpus creation methods. Results from the analysis using these models are presented. The implementation of a learning health system for predicting radiation pneumonitis following stereotactic body radiotherapy is also discussed. 3D convolutional neural networks (CNNs) are utilized with radiographic and dosimetric datasets to predict the likelihood of radiation pneumonitis. DenseNet-121 and ResNet-50 models are employed for this study, along with integrated gradient techniques to identify salient regions within the input 3D image dataset. The predictive performance of the 3D CNN models is evaluated based on clinical outcomes. Overall, the proposed Learning Health System provides a comprehensive solution for capturing, integrating, and analyzing heterogeneous data in a knowledge base. It offers researchers the ability to extract valuable insights and associations from diverse sources, ultimately leading to improved clinical outcomes. This work can serve as a model for implementing LHS in other medical specialties, advancing personalized and data-driven medicine

Quantitative imaging in radiation oncology

Artificially intelligent eyes, built on machine and deep learning technologies, can empower our capability of analysing patients’ images. By revealing information invisible at our eyes, we can build decision aids that help our clinicians to provide more effective treatment, while reducing side effects. The power of these decision aids is to be based on patient tumour biologically unique properties, referred to as biomarkers. To fully translate this technology into the clinic we need to overcome barriers related to the reliability of image-derived biomarkers, trustiness in AI algorithms and privacy-related issues that hamper the validation of the biomarkers. This thesis developed methodologies to solve the presented issues, defining a road map for the responsible usage of quantitative imaging into the clinic as decision support system for better patient care

Towards structured sharing of raw and derived neuroimaging data across existing resources

Data sharing efforts increasingly contribute to the acceleration of scientific discovery. Neuroimaging data is accumulating in distributed domain-specific databases and there is currently no integrated access mechanism nor an accepted format for the critically important meta-data that is necessary for making use of the combined, available neuroimaging data. In this manuscript, we present work from the Derived Data Working Group, an open-access group sponsored by the Biomedical Informatics Research Network (BIRN) and the International Neuroimaging Coordinating Facility (INCF) focused on practical tools for distributed access to neuroimaging data. The working group develops models and tools facilitating the structured interchange of neuroimaging meta-data and is making progress towards a unified set of tools for such data and meta-data exchange. We report on the key components required for integrated access to raw and derived neuroimaging data as well as associated meta-data and provenance across neuroimaging resources. The components include (1) a structured terminology that provides semantic context to data, (2) a formal data model for neuroimaging with robust tracking of data provenance, (3) a web service-based application programming interface (API) that provides a consistent mechanism to access and query the data model, and (4) a provenance library that can be used for the extraction of provenance data by image analysts and imaging software developers. We believe that the framework and set of tools outlined in this manuscript have great potential for solving many of the issues the neuroimaging community faces when sharing raw and derived neuroimaging data across the various existing database systems for the purpose of accelerating scientific discovery

Data Ontology and an Information System Realization for Web-Based Management of Image Measurements

Image acquisition, processing, and quantification of objects (morphometry) require the integration of data inputs and outputs originating from heterogeneous sources. Management of the data exchange along this workflow in a systematic manner poses several challenges, notably the description of the heterogeneous meta-data and the interoperability between the software used. The use of integrated software solutions for morphometry and management of imaging data in combination with ontologies can reduce meta-data loss and greatly facilitate subsequent data analysis. This paper presents an integrated information system, called LabIS. The system has the objectives to automate (i) the process of storage, annotation, and querying of image measurements and (ii) to provide means for data sharing with third party applications consuming measurement data using open standard communication protocols. LabIS implements 3-tier architecture with a relational database back-end and an application logic middle tier realizing web-based user interface for reporting and annotation and a web-service communication layer. The image processing and morphometry functionality is backed by interoperability with ImageJ, a public domain image processing software, via integrated clients. Instrumental for the latter feat was the construction of a data ontology representing the common measurement data model. LabIS supports user profiling and can store arbitrary types of measurements, regions of interest, calibrations, and ImageJ settings. Interpretation of the stored measurements is facilitated by atlas mapping and ontology-based markup. The system can be used as an experimental workflow management tool allowing for description and reporting of the performed experiments. LabIS can be also used as a measurements repository that can be transparently accessed by computational environments, such as Matlab. Finally, the system can be used as a data sharing tool

A Semantic Framework Supporting Multilayer Networks Analysis for Rare Diseases

Understanding the role played by genetic variations in diseases, exploring genomic variants, and discovering disease-associated loci are among the most pressing challenges of genomic medicine. A huge and ever-increasing amount of information is available to researchers to address these challenges. Unfortunately, it is stored in fragmented ontologies and databases, which use heterogeneous formats and poorly integrated schemas. To overcome these limitations, the authors propose a linked data approach, based on the formalism of multilayer networks, able to integrate and harmonize biomedical information from multiple sources into a single dense network covering different aspects on Neuroendocrine Neoplasms (NENs). The proposed integration schema consists of three interconnected layers representing, respectively, information on the disease, on the affected genes, on the related biological processes and molecular functions. An easy-to-use client-server application was also developed to browse and search for information on the model supporting multilayer network analysis

Recuperação de informação multimodal em repositórios de imagem médica

The proliferation of digital medical imaging modalities in hospitals and other diagnostic facilities has created huge repositories of valuable data, often not fully explored. Moreover, the past few years show a growing trend of data production. As such, studying new ways to index, process and retrieve medical images becomes an important subject to be addressed by the wider community of radiologists, scientists and engineers. Content-based image retrieval, which encompasses various methods, can exploit the visual information of a medical imaging archive, and is known to be beneficial to practitioners and researchers. However, the integration of the latest systems for medical image retrieval into clinical workflows is still rare, and their effectiveness still show room for improvement. This thesis proposes solutions and methods for multimodal information retrieval, in the context of medical imaging repositories. The major contributions are a search engine for medical imaging studies supporting multimodal queries in an extensible archive; a framework for automated labeling of medical images for content discovery; and an assessment and proposal of feature learning techniques for concept detection from medical images, exhibiting greater potential than feature extraction algorithms that were pertinently used in similar tasks. These contributions, each in their own dimension, seek to narrow the scientific and technical gap towards the development and adoption of novel multimodal medical image retrieval systems, to ultimately become part of the workflows of medical practitioners, teachers, and researchers in healthcare.A proliferação de modalidades de imagem médica digital, em hospitais, clínicas e outros centros de diagnóstico, levou à criação de enormes repositórios de dados, frequentemente não explorados na sua totalidade. Além disso, os últimos anos revelam, claramente, uma tendência para o crescimento da produção de dados. Portanto, torna-se importante estudar novas maneiras de indexar, processar e recuperar imagens médicas, por parte da comunidade alargada de radiologistas, cientistas e engenheiros. A recuperação de imagens baseada em conteúdo, que envolve uma grande variedade de métodos, permite a exploração da informação visual num arquivo de imagem médica, o que traz benefícios para os médicos e investigadores. Contudo, a integração destas soluções nos fluxos de trabalho é ainda rara e a eficácia dos mais recentes sistemas de recuperação de imagem médica pode ser melhorada. A presente tese propõe soluções e métodos para recuperação de informação multimodal, no contexto de repositórios de imagem médica. As contribuições principais são as seguintes: um motor de pesquisa para estudos de imagem médica com suporte a pesquisas multimodais num arquivo extensível; uma estrutura para a anotação automática de imagens; e uma avaliação e proposta de técnicas de representation learning para deteção automática de conceitos em imagens médicas, exibindo maior potencial do que as técnicas de extração de features visuais outrora pertinentes em tarefas semelhantes. Estas contribuições procuram reduzir as dificuldades técnicas e científicas para o desenvolvimento e adoção de sistemas modernos de recuperação de imagem médica multimodal, de modo a que estes façam finalmente parte das ferramentas típicas dos profissionais, professores e investigadores da área da saúde.Programa Doutoral em Informátic

Computer-Aided Diagnosis for Melanoma using Ontology and Deep Learning Approaches

The emergence of deep-learning algorithms provides great potential to enhance the prediction performance of computer-aided supporting diagnosis systems. Recent research efforts indicated that well-trained algorithms could achieve the accuracy level of experienced senior clinicians in the Dermatology field. However, the lack of interpretability and transparency hinders the algorithms’ utility in real-life. Physicians and patients require a certain level of interpretability for them to accept and trust the results. Another limitation of AI algorithms is the lack of consideration of other information related to the disease diagnosis, for example some typical dermoscopic features and diagnostic guidelines. Clinical guidelines for skin disease diagnosis are designed based on dermoscopic features. However, a structured and standard representation of the relevant knowledge in the skin disease domain is lacking. To address the above challenges, this dissertation builds an ontology capable of formally representing the knowledge of dermoscopic features and develops an explainable deep learning model able to diagnose skin diseases and dermoscopic features. Additionally, large-scale, unlabeled datasets can learn from the trained model and automate the feature generation process. The computer vision aided feature extraction algorithms are combined with the deep learning model to improve the overall classification accuracy and save manual annotation efforts