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

QueryOR: a comprehensive web platform for genetic variant analysis and prioritization

Background: Whole genome and exome sequencing are contributing to the extraordinary progress in the study of human genetic variants. In this fast developing field, appropriate and easily accessible tools are required to facilitate data analysis. Results: Here we describe QueryOR, a web platform suitable for searching among known candidate genes as well as for finding novel gene-disease associations. QueryOR combines several innovative features that make it comprehensive, flexible and easy to use. Instead of being designed on specific datasets, it works on a general XML schema specifying formats and criteria of each data source. Thanks to this flexibility, new criteria can be easily added for future expansion. Currently, up to 70 user-selectable criteria are available, including a wide range of gene and variant features. Moreover, rather than progressively discarding variants taking one criterion at a time, the prioritization is achieved by a global positive selection process that considers all transcript isoforms, thus producing reliable results. QueryOR is easy to use and its intuitive interface allows to handle different kinds of inheritance as well as features related to sharing variants in different patients. QueryOR is suitable for investigating single patients, families or cohorts. Conclusions: QueryOR is a comprehensive and flexible web platform eligible for an easy user-driven variant prioritization. It is freely available for academic institutions at http://queryor.cribi.unipd.it/

Corporate Smart Content Evaluation

Nowadays, a wide range of information sources are available due to the evolution of web and collection of data. Plenty of these information are consumable and usable by humans but not understandable and processable by machines. Some data may be directly accessible in web pages or via data feeds, but most of the meaningful existing data is hidden within deep web databases and enterprise information systems. Besides the inability to access a wide range of data, manual processing by humans is effortful, error-prone and not contemporary any more. Semantic web technologies deliver capabilities for machine-readable, exchangeable content and metadata for automatic processing of content. The enrichment of heterogeneous data with background knowledge described in ontologies induces re-usability and supports automatic processing of data. The establishment of “Corporate Smart Content” (CSC) - semantically enriched data with high information content with sufficient benefits in economic areas - is the main focus of this study. We describe three actual research areas in the field of CSC concerning scenarios and datasets applicable for corporate applications, algorithms and research. Aspect- oriented Ontology Development advances modular ontology development and partial reuse of existing ontological knowledge. Complex Entity Recognition enhances traditional entity recognition techniques to recognize clusters of related textual information about entities. Semantic Pattern Mining combines semantic web technologies with pattern learning to mine for complex models by attaching background knowledge. This study introduces the afore-mentioned topics by analyzing applicable scenarios with economic and industrial focus, as well as research emphasis. Furthermore, a collection of existing datasets for the given areas of interest is presented and evaluated. The target audience includes researchers and developers of CSC technologies - people interested in semantic web features, ontology development, automation, extracting and mining valuable information in corporate environments. The aim of this study is to provide a comprehensive and broad overview over the three topics, give assistance for decision making in interesting scenarios and choosing practical datasets for evaluating custom problem statements. Detailed descriptions about attributes and metadata of the datasets should serve as starting point for individual ideas and approaches

Development of a text mining approach to disease network discovery

Scientific literature is one of the major sources of knowledge for systems biology, in the form of papers, patents and other types of written reports. Text mining methods aim at automatically extracting relevant information from the literature. The hypothesis of this thesis was that biological systems could be elucidated by the development of text mining solutions that can automatically extract relevant information from documents. The first objective consisted in developing software components to recognize biomedical entities in text, which is the first step to generate a network about a biological system. To this end, a machine learning solution was developed, which can be trained for specific biological entities using an annotated dataset, obtaining high-quality results. Additionally, a rule-based solution was developed, which can be easily adapted to various types of entities. The second objective consisted in developing an automatic approach to link the recognized entities to a reference knowledge base. A solution based on the PageRank algorithm was developed in order to match the entities to the concepts that most contribute to the overall coherence. The third objective consisted in automatically extracting relations between entities, to generate knowledge graphs about biological systems. Due to the lack of annotated datasets available for this task, distant supervision was employed to train a relation classifier on a corpus of documents and a knowledge base. The applicability of this approach was demonstrated in two case studies: microRNAgene relations for cystic fibrosis, obtaining a network of 27 relations using the abstracts of 51 recently published papers; and cell-cytokine relations for tolerogenic cell therapies, obtaining a network of 647 relations from 3264 abstracts. Through a manual evaluation, the information contained in these networks was determined to be relevant. Additionally, a solution combining deep learning techniques with ontology information was developed, to take advantage of the domain knowledge provided by ontologies. This thesis contributed with several solutions that demonstrate the usefulness of text mining methods to systems biology by extracting domain-specific information from the literature. These solutions make it easier to integrate various areas of research, leading to a better understanding of biological systems

Unsupervised Annotation of Phenotypic Abnormalities via Semantic Latent Representations on Electronic Health Records

The extraction of phenotype information which is naturally contained in electronic health records (EHRs) has been found to be useful in various clinical informatics applications such as disease diagnosis. However, due to imprecise descriptions, lack of gold standards and the demand for efficiency, annotating phenotypic abnormalities on millions of EHR narratives is still challenging. In this work, we propose a novel unsupervised deep learning framework to annotate the phenotypic abnormalities from EHRs via semantic latent representations. The proposed framework takes the advantage of Human Phenotype Ontology (HPO), which is a knowledge base of phenotypic abnormalities, to standardize the annotation results. Experiments have been conducted on 52,722 EHRs from MIMIC-III dataset. Quantitative and qualitative analysis have shown the proposed framework achieves state-of-the-art annotation performance and computational efficiency compared with other methods.Comment: Accepted by BIBM 2019 (Regular