Deploying mutation impact text-mining software with the SADI Semantic Web Services framework

Background: Mutation impact extraction is an important task designed to harvest relevant annotations from scientific documents for reuse in multiple contexts. Our previous work on text mining for mutation impacts resulted in (i) the development of a GATE-based pipeline that mines texts for information about impacts of mutations on proteins, (ii) the population of this information into our OWL DL mutation impact ontology, and (iii) establishing an experimental semantic database for storing the results of text mining. Results: This article explores the possibility of using the SADI framework as a medium for publishing our mutation impact software and data. SADI is a set of conventions for creating web services with semantic descriptions that facilitate automatic discovery and orchestration. We describe a case study exploring and demonstrating the utility of the SADI approach in our context. We describe several SADI services we created based on our text mining API and data, and demonstrate how they can be used in a number of biologically meaningful scenarios through a SPARQL interface (SHARE) to SADI services. In all cases we pay special attention to the integration of mutation impact services with external SADI services providing information about related biological entities, such as proteins, pathways, and drugs. Conclusion: We have identified that SADI provides an effective way of exposing our mutation impact data suc

Towards ontology-driven navigation of the lipid bibliosphere

10.1186/1471-2105-9-S1-S5BMC Bioinformatics9SUPPL. 1BBMI

Semantic text mining support for lignocellulose research

Biofuels produced from biomass are considered to be promising sustainable alternatives to fossil fuels. The conversion of lignocellulose into fermentable sugars for biofuels production requires the use of enzyme cocktails that can efficiently and economically hydrolyze lignocellulosic biomass. As many fungi naturally break down lignocellulose, the identification and characterization of the enzymes involved is a key challenge in the research and development of biomass-derived products and fuels. One approach to meeting this challenge is to mine the rapidly-expanding repertoire of microbial genomes for enzymes with the appropriate catalytic properties. Semantic technologies, including natural language processing, ontologies, semantic Web services and Web-based collaboration tools, promise to support users in handling complex data, thereby facilitating knowledge-intensive tasks. An ongoing challenge is to select the appropriate technologies and combine them in a coherent system that brings measurable improvements to the users. We present our ongoing development of a semantic infrastructure in support of genomics-based lignocellulose research. Part of this effort is the automated curation of knowledge from information on fungal enzymes that is available in the literature and genome resources. Working closely with fungal biology researchers who manually curate the existing literature, we developed ontological natural language processing pipelines integrated in a Web-based interface to assist them in two main tasks: mining the literature for relevant knowledge, and at the same time providing rich and semantically linked information

A Knowledge Graph Framework for Dementia Research Data

Dementia disease research encompasses diverse data modalities, including advanced imaging, deep phenotyping, and multi-omics analysis. However, integrating these disparate data sources has historically posed a significant challenge, obstructing the unification and comprehensive analysis of collected information. In recent years, knowledge graphs have emerged as a powerful tool to address such integration issues by enabling the consolidation of heterogeneous data sources into a structured, interconnected network of knowledge. In this context, we introduce DemKG, an open-source framework designed to facilitate the construction of a knowledge graph integrating dementia research data, comprising three core components: a KG-builder that integrates diverse domain ontologies and data annotations, an extensions ontology providing necessary terms tailored for dementia research, and a versatile transformation module for incorporating study data. In contrast with other current solutions, our framework provides a stable foundation by leveraging established ontologies and community standards and simplifies study data integration while delivering solid ontology design patterns, broadening its usability. Furthermore, the modular approach of its components enhances flexibility and scalability. We showcase how DemKG might aid and improve multi-modal data investigations through a series of proof-of-concept scenarios focused on relevant Alzheimer’s disease biomarkers

The Infectious Disease Ontology in the Age of COVID-19

The Infectious Disease Ontology (IDO) is a suite of interoperable ontology modules that aims to provide coverage of all aspects of the infectious disease domain, including biomedical research, clinical care, and public health. IDO Core is designed to be a disease and pathogen neutral ontology, covering just those types of entities and relations that are relevant to infectious diseases generally. IDO Core is then extended by a collection of ontology modules focusing on specific diseases and pathogens. In this paper we present applications of IDO Core within various areas of infectious disease research, together with an overview of all IDO extension ontologies and the methodology on the basis of which they are built. We also survey recent developments involving IDO, including the creation of IDO Virus; the Coronaviruses Infectious Disease Ontology (CIDO); and an extension of CIDO focused on COVID-19 (IDO-CovID-19).We also discuss how these ontologies might assist in information-driven efforts to deal with the ongoing COVID-19 pandemic, to accelerate data discovery in the early stages of future pandemics, and to promote reproducibility of infectious disease research

Prototype semantic infrastructure for automated small molecule classification and annotation in lipidomics

<p>Abstract</p> <p>Background</p> <p>The development of high-throughput experimentation has led to astronomical growth in biologically relevant lipids and lipid derivatives identified, screened, and deposited in numerous online databases. Unfortunately, efforts to annotate, classify, and analyze these chemical entities have largely remained in the hands of human curators using manual or semi-automated protocols, leaving many novel entities unclassified. Since chemical function is often closely linked to structure, accurate structure-based classification and annotation of chemical entities is imperative to understanding their functionality.</p> <p>Results</p> <p>As part of an exploratory study, we have investigated the utility of semantic web technologies in automated chemical classification and annotation of lipids. Our prototype framework consists of two components: an ontology and a set of federated web services that operate upon it. The formal lipid ontology we use here extends a part of the LiPrO ontology and draws on the lipid hierarchy in the LIPID MAPS database, as well as literature-derived knowledge. The federated semantic web services that operate upon this ontology are deployed within the Semantic Annotation, Discovery, and Integration (SADI) framework. Structure-based lipid classification is enacted by two core services. Firstly, a structural annotation service detects and enumerates relevant functional groups for a specified chemical structure. A second service reasons over lipid ontology class descriptions using the attributes obtained from the annotation service and identifies the appropriate lipid classification. We extend the utility of these core services by combining them with additional SADI services that retrieve associations between lipids and proteins and identify publications related to specified lipid types. We analyze the performance of SADI-enabled eicosanoid classification relative to the LIPID MAPS classification and reflect on the contribution of our integrative methodology in the context of high-throughput lipidomics.</p> <p>Conclusions</p> <p>Our prototype framework is capable of accurate automated classification of lipids and facile integration of lipid class information with additional data obtained with SADI web services. The potential of programming-free integration of external web services through the SADI framework offers an opportunity for development of powerful novel applications in lipidomics. We conclude that semantic web technologies can provide an accurate and versatile means of classification and annotation of lipids.</p

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

LinkHub: a Semantic Web system that facilitates cross-database queries and information retrieval in proteomics

<p>Abstract</p> <p>Background</p> <p>A key abstraction in representing proteomics knowledge is the notion of unique identifiers for individual entities (e.g. proteins) and the massive graph of relationships among them. These relationships are sometimes simple (e.g. synonyms) but are often more complex (e.g. one-to-many relationships in protein family membership).</p> <p>Results</p> <p>We have built a software system called LinkHub using Semantic Web RDF that manages the graph of identifier relationships and allows exploration with a variety of interfaces. For efficiency, we also provide relational-database access and translation between the relational and RDF versions. LinkHub is practically useful in creating small, local hubs on common topics and then connecting these to major portals in a federated architecture; we have used LinkHub to establish such a relationship between UniProt and the North East Structural Genomics Consortium. LinkHub also facilitates queries and access to information and documents related to identifiers spread across multiple databases, acting as "connecting glue" between different identifier spaces. We demonstrate this with example queries discovering "interologs" of yeast protein interactions in the worm and exploring the relationship between gene essentiality and pseudogene content. We also show how "protein family based" retrieval of documents can be achieved. LinkHub is available at hub.gersteinlab.org and hub.nesg.org with supplement, database models and full-source code.</p> <p>Conclusion</p> <p>LinkHub leverages Semantic Web standards-based integrated data to provide novel information retrieval to identifier-related documents through relational graph queries, simplifies and manages connections to major hubs such as UniProt, and provides useful interactive and query interfaces for exploring the integrated data.</p

BlogForever D2.6: Data Extraction Methodology

This report outlines an inquiry into the area of web data extraction, conducted within the context of blog preservation. The report reviews theoretical advances and practical developments for implementing data extraction. The inquiry is extended through an experiment that demonstrates the effectiveness and feasibility of implementing some of the suggested approaches. More specifically, the report discusses an approach based on unsupervised machine learning that employs the RSS feeds and HTML representations of blogs. It outlines the possibilities of extracting semantics available in blogs and demonstrates the benefits of exploiting available standards such as microformats and microdata. The report proceeds to propose a methodology for extracting and processing blog data to further inform the design and development of the BlogForever platform