Knowledge-based Biomedical Data Science 2019

Knowledge-based biomedical data science (KBDS) involves the design and implementation of computer systems that act as if they knew about biomedicine. Such systems depend on formally represented knowledge in computer systems, often in the form of knowledge graphs. Here we survey the progress in the last year in systems that use formally represented knowledge to address data science problems in both clinical and biological domains, as well as on approaches for creating knowledge graphs. Major themes include the relationships between knowledge graphs and machine learning, the use of natural language processing, and the expansion of knowledge-based approaches to novel domains, such as Chinese Traditional Medicine and biodiversity.Comment: Manuscript 43 pages with 3 tables; Supplemental material 43 pages with 3 table

HyDRA Hybrid workflow Design Recommender Architecture

Workflows are a way to describe a series of computations on raw e-Science data. These data may be MRI brain scans, data from a high energy physics detector or metric data from an earth observation project. In order to derive meaningful knowledge from the data, it must be processed and analysed. Workflows have emerged as the principle mechanism for describing and enacting complex e-Science analyses on distributed infrastructures such as grids. Scientific users face a number of challenges when designing workflows. These challenges include selecting appropriate components for their tasks, spec- ifying dependencies between them and selecting appropriate parameter values. These tasks become especially challenging as workflows become increasingly large. For example, the CIVET workflow consists of up to 108 components. Building the workflow by hand and specifying all the links can become quite cumbersome for scientific users.Traditionally, recommender systems have been employed to assist users in such time-consuming and tedious tasks. One of the techniques used by recommender systems has been to predict what the user is attempting to do using a variety of techniques. These techniques include using workflow se- mantics on the one hand and historical usage patterns on the other. Semantics-based systems attempt to infer a user’s intentions based on the available semantics. Pattern-based systems attempt to extract usage patterns from previously-constructed workflows and match those patterns to the workflow un- der construction. The use of historical patterns adds dynamism to the suggestions as the system can learn and adapt with “experience”. However, in cases where there are no previous patterns to draw upon, pattern-based systems fail to perform. Semantics-based systems, on the other hand infer from static information, so they always have something to draw upon. However, that information first has to be encoded into the semantic repository for the system to draw upon it, which is a time-consuming and tedious task in it self. Moreover, semantics-based systems do not learn and adapt with experience. Both approaches have distinct, but complementary features and drawbacks. By combining the two approaches, the drawbacks of each approach can be addressed.This thesis presents HyDRA, a novel hybrid framework that combines frequent usage patterns and workflow semantics to generate suggestions. The functions performed by the framework include; a) extracting frequent functional usage patterns; b) identifying the semantics of unknown components; and c) generating accurate and meaningful suggestions. Challenges to mining frequent patterns in- clude ensuring that meaningful and useful patterns are extracted. For this purpose only patterns that occur above a minimum frequency threshold are mined. Moreover, instead of just groups of specific components, the pattern mining algorithm takes into account workflow component semantics. This allows the system to identify different types of components that perform a single composite function. One of the challenges in maintaining a semantic repository is to keep the repository up-to-date. This involves identifying new items and inferring their semantics. In this regard, a minor contribution of this research is a semantic inference engine that is responsible for function b). This engine also uses pre-defined workflow component semantics to infer new semantic properties and generate more accurate suggestions. The overall suggestion generation algorithm is also presented.HyDRA has been evaluated using workflows from the Laboratory of Neuro Imaging (LONI) repos- itory. These workflows have been chosen for their structural and functional characteristics that help� to evaluate the framework in different scenarios. The system is also compared with another existing pattern-based system to show a clear improvement in the accuracy of the suggestions generated

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

Cross-Domain information extraction from scientific articles for research knowledge graphs

Today’s scholarly communication is a document-centred process and as such, rather inefficient. Fundamental contents of research papers are not accessible by computers since they are only present in unstructured PDF files. Therefore, current research infrastructures are not able to assist scientists appropriately in their core research tasks. This thesis addresses this issue and proposes methods to automatically extract relevant information from scientific articles for Research Knowledge Graphs (RKGs) that represent scholarly knowledge structured and interlinked. First, this thesis conducts a requirements analysis for an Open Research Knowledge Graph (ORKG). We present literature-related use cases of researchers that should be supported by an ORKG-based system and their specific requirements for the underlying ontology and instance data. Based on this analysis, the identified use cases are categorised into two groups: The first group of use cases needs manual or semi-automatic approaches for knowledge graph (KG) construction since they require high correctness of the instance data. The second group requires high completeness and can tolerate noisy instance data. Thus, this group needs automatic approaches for KG population. This thesis focuses on the second group of use cases and provides contributions for machine learning tasks that aim to support them. To assess the relevance of a research paper, scientists usually skim through titles, abstracts, introductions, and conclusions. An organised presentation of the articles' essential information would make this process more time-efficient. The task of sequential sentence classification addresses this issue by classifying sentences in an article in categories like research problem, used methods, or obtained results. To address this problem, we propose a novel unified cross-domain multi-task deep learning approach that makes use of datasets from different scientific domains (e.g. biomedicine and computer graphics) and varying structures (e.g. datasets covering either only abstracts or full papers). Our approach outperforms the state of the art on full paper datasets significantly while being competitive for datasets consisting of abstracts. Moreover, our approach enables the categorisation of sentences in a domain-independent manner. Furthermore, we present the novel task of domain-independent information extraction to extract scientific concepts from research papers in a domain-independent manner. This task aims to support the use cases find related work and get recommended articles. For this purpose, we introduce a set of generic scientific concepts that are relevant over ten domains in Science, Technology, and Medicine (STM) and release an annotated dataset of 110 abstracts from these domains. Since the annotation of scientific text is costly, we suggest an active learning strategy based on a state-of-the-art deep learning approach. The proposed method enables us to nearly halve the amount of required training data. Then, we extend this domain-independent information extraction approach with the task of \textit{coreference resolution}. Coreference resolution aims to identify mentions that refer to the same concept or entity. Baseline results on our corpus with current state-of-the-art approaches for coreference resolution showed that current approaches perform poorly on scientific text. Therefore, we propose a sequential transfer learning approach that exploits annotated datasets from non-academic domains. Our experimental results demonstrate that our approach noticeably outperforms the state-of-the-art baselines. Additionally, we investigate the impact of coreference resolution on KG population. We demonstrate that coreference resolution has a small impact on the number of resulting concepts in the KG, but improved its quality significantly. Consequently, using our domain-independent information extraction approach, we populate an RKG from 55,485 abstracts of the ten investigated STM domains. We show that every domain mainly uses its own terminology and that the populated RKG contains useful concepts. Moreover, we propose a novel approach for the task of \textit{citation recommendation}. This task can help researchers improve the quality of their work by finding or recommending relevant related work. Our approach exploits RKGs that interlink research papers based on mentioned scientific concepts. Using our automatically populated RKG, we demonstrate that the combination of information from RKGs with existing state-of-the-art approaches is beneficial. Finally, we conclude the thesis and sketch possible directions of future work.Die Kommunikation von Forschungsergebnissen erfolgt heutzutage in Form von Dokumenten und ist aus verschiedenen Gründen ineffizient. Wesentliche Inhalte von Forschungsarbeiten sind für Computer nicht zugänglich, da sie in unstrukturierten PDF-Dateien verborgen sind. Daher können derzeitige Forschungsinfrastrukturen Forschende bei ihren Kernaufgaben nicht angemessen unterstützen. Diese Arbeit befasst sich mit dieser Problemstellung und untersucht Methoden zur automatischen Extraktion von relevanten Informationen aus Forschungspapieren für Forschungswissensgraphen (Research Knowledge Graphs). Solche Graphen sollen wissenschaftliches Wissen maschinenlesbar strukturieren und verknüpfen. Zunächst wird eine Anforderungsanalyse für einen Open Research Knowledge Graph (ORKG) durchgeführt. Wir stellen literaturbezogene Anwendungsfälle von Forschenden vor, die durch ein ORKG-basiertes System unterstützt werden sollten, und deren spezifische Anforderungen an die zugrundeliegende Ontologie und die Instanzdaten. Darauf aufbauend werden die identifizierten Anwendungsfälle in zwei Gruppen eingeteilt: Die erste Gruppe von Anwendungsfällen benötigt manuelle oder halbautomatische Ansätze für die Konstruktion eines ORKG, da sie eine hohe Korrektheit der Instanzdaten erfordern. Die zweite Gruppe benötigt eine hohe Vollständigkeit der Instanzdaten und kann fehlerhafte Daten tolerieren. Daher erfordert diese Gruppe automatische Ansätze für die Konstruktion des ORKG. Diese Arbeit fokussiert sich auf die zweite Gruppe von Anwendungsfällen und schlägt Methoden für maschinelle Aufgabenstellungen vor, die diese Anwendungsfälle unterstützen können. Um die Relevanz eines Forschungsartikels effizient beurteilen zu können, schauen sich Forschende in der Regel die Titel, Zusammenfassungen, Einleitungen und Schlussfolgerungen an. Durch eine strukturierte Darstellung von wesentlichen Informationen des Artikels könnte dieser Prozess zeitsparender gestaltet werden. Die Aufgabenstellung der sequenziellen Satzklassifikation befasst sich mit diesem Problem, indem Sätze eines Artikels in Kategorien wie Forschungsproblem, verwendete Methoden oder erzielte Ergebnisse automatisch klassifiziert werden. In dieser Arbeit wird für diese Aufgabenstellung ein neuer vereinheitlichter Multi-Task Deep-Learning-Ansatz vorgeschlagen, der Datensätze aus verschiedenen wissenschaftlichen Bereichen (z. B. Biomedizin und Computergrafik) mit unterschiedlichen Strukturen (z. B. Datensätze bestehend aus Zusammenfassungen oder vollständigen Artikeln) nutzt. Unser Ansatz übertrifft State-of-the-Art-Verfahren der Literatur auf Benchmark-Datensätzen bestehend aus vollständigen Forschungsartikeln. Außerdem ermöglicht unser Ansatz die Klassifizierung von Sätzen auf eine domänenunabhängige Weise. Darüber hinaus stellen wir die neue Aufgabenstellung domänenübergreifende Informationsextraktion vor. Hierbei werden, unabhängig vom behandelten wissenschaftlichen Fachgebiet, inhaltliche Konzepte aus Forschungspapieren extrahiert. Damit sollen die Anwendungsfälle Finden von verwandten Arbeiten und Empfehlung von Artikeln unterstützt werden. Zu diesem Zweck führen wir eine Reihe von generischen wissenschaftlichen Konzepten ein, die in zehn Bereichen der Wissenschaft, Technologie und Medizin (STM) relevant sind, und veröffentlichen einen annotierten Datensatz von 110 Zusammenfassungen aus diesen Bereichen. Da die Annotation wissenschaftlicher Texte aufwändig ist, kombinieren wir ein Active-Learning-Verfahren mit einem aktuellen Deep-Learning-Ansatz, um die notwendigen Trainingsdaten zu reduzieren. Die vorgeschlagene Methode ermöglicht es uns, die Menge der erforderlichen Trainingsdaten nahezu zu halbieren. Anschließend erweitern wir unseren domänenunabhängigen Ansatz zur Informationsextraktion um die Aufgabe der Koreferenzauflösung. Die Auflösung von Koreferenzen zielt darauf ab, Erwähnungen zu identifizieren, die sich auf dasselbe Konzept oder dieselbe Entität beziehen. Experimentelle Ergebnisse auf unserem Korpus mit aktuellen Ansätzen zur Koreferenzauflösung haben gezeigt, dass diese bei wissenschaftlichen Texten unzureichend abschneiden. Daher schlagen wir eine Transfer-Learning-Methode vor, die annotierte Datensätze aus nicht-akademischen Bereichen nutzt. Die experimentellen Ergebnisse zeigen, dass unser Ansatz deutlich besser abschneidet als die bisherigen Ansätze. Darüber hinaus untersuchen wir den Einfluss der Koreferenzauflösung auf die Erstellung von Wissensgraphen. Wir zeigen, dass diese einen geringen Einfluss auf die Anzahl der resultierenden Konzepte in dem Wissensgraphen hat, aber die Qualität des Wissensgraphen deutlich verbessert. Mithilfe unseres domänenunabhängigen Ansatzes zur Informationsextraktion haben wir aus 55.485 Zusammenfassungen der zehn untersuchten STM-Domänen einen Forschungswissensgraphen erstellt. Unsere Analyse zeigt, dass jede Domäne hauptsächlich ihre eigene Terminologie verwendet und dass der erstellte Wissensgraph nützliche Konzepte enthält. Schließlich schlagen wir einen Ansatz für die Empfehlung von passenden Referenzen vor. Damit können Forschende einfacher relevante verwandte Arbeiten finden oder passende Empfehlungen erhalten. Unser Ansatz nutzt Forschungswissensgraphen, die Forschungsarbeiten mit in ihnen erwähnten wissenschaftlichen Konzepten verknüpfen. Wir zeigen, dass aktuelle Verfahren zur Empfehlung von Referenzen von zusätzlichen Informationen aus einem automatisch erstellten Wissensgraphen profitieren. Zum Schluss wird ein Fazit gezogen und ein Ausblick für mögliche zukünftige Arbeiten gegeben

Exploring Text Mining and Analytics for Applications in Public Security: An in-depth dive into a systematic literature review

Text mining and related analytics emerge as a technological approach to support human activities in extracting useful knowledge through texts in several formats. From a managerial point of view, it can help organizations in planning and decision-making processes, providing information that was not previously evident through textual materials produced internally or even externally. In this context, within the public/governmental scope, public security agencies are great beneficiaries of the tools associated with text mining, in several aspects, from applications in the criminal area to the collection of people's opinions and sentiments about the actions taken to promote their welfare. This article reports details of a systematic literature review focused on identifying the main areas of text mining application in public security, the most recurrent technological tools, and future research directions. The searches covered four major article bases (Scopus, Web of Science, IEEE Xplore, and ACM Digital Library), selecting 194 materials published between 2014 and the first half of 2021, among journals, conferences, and book chapters. There were several findings concerning the targets of the literature review, as presented in the results of this article