Visualization of Documents and Concepts in Neuroinformatics with the 3D-SE Viewer

A new interactive visualization tool is proposed for mining text data from various fields of neuroscience. Applications to several text datasets are presented to demonstrate the capability of the proposed interactive tool to visualize complex relationships between pairs of lexical entities (with some semantic contents) such as terms, keywords, posters, or papers' abstracts. Implemented as a Java applet, this tool is based on the spherical embedding (SE) algorithm, which was designed for the visualization of bipartite graphs. Items such as words and documents are linked on the basis of occurrence relationships, which can be represented in a bipartite graph. These items are visualized by embedding the vertices of the bipartite graph on spheres in a three-dimensional (3-D) space. The main advantage of the proposed visualization tool is that 3-D layouts can convey more information than planar or linear displays of items or graphs. Different kinds of information extracted from texts, such as keywords, indexing terms, or topics are visualized, allowing interactive browsing of various fields of research featured by keywords, topics, or research teams. A typical use of the 3D-SE viewer is quick browsing of topics displayed on a sphere, then selecting one or several item(s) displays links to related terms on another sphere representing, e.g., documents or abstracts, and provides direct online access to the document source in a database, such as the Visiome Platform or the SfN Annual Meeting. Developed as a Java applet, it operates as a tool on top of existing resources

Development and use of Ontologies Inside the Neuroscience Information Framework: A Practical Approach

An initiative of the NIH Blueprint for neuroscience research, the Neuroscience Information Framework (NIF) project advances neuroscience by enabling discovery and access to public research data and tools worldwide through an open source, semantically enhanced search portal. One of the critical components for the overall NIF system, the NIF Standardized Ontologies (NIFSTD), provides an extensive collection of standard neuroscience concepts along with their synonyms and relationships. The knowledge models defined in the NIFSTD ontologies enable an effective concept-based search over heterogeneous types of web-accessible information entities in NIF’s production system. NIFSTD covers major domains in neuroscience, including diseases, brain anatomy, cell types, sub-cellular anatomy, small molecules, techniques, and resource descriptors. Since the first production release in 2008, NIF has grown significantly in content and functionality, particularly with respect to the ontologies and ontology-based services that drive the NIF system. We present here on the structure, design principles, community engagement, and the current state of NIFSTD ontologies

Search strategy formulation for systematic reviews: Issues, challenges and opportunities

Systematic literature reviews play a vital role in identifying the best available evidence for health and social care research, policy, and practice. The resources required to produce systematic reviews can be significant, and a key to the success of any review is the search strategy used to identify relevant literature. However, the methods used to construct search strategies can be complex, time consuming, resource intensive and error prone. In this review, we examine the state of the art in resolving complex structured information needs, focusing primarily on the healthcare context. We analyse the literature to identify key challenges and issues and explore appropriate solutions and workarounds. From this analysis we propose a way forward to facilitate trust and to aid explainability and transparency, reproducibility and replicability through a set of key design principles for tools to support the development of search strategies in systematic literature reviews

AsdKB: A Chinese Knowledge Base for the Early Screening and Diagnosis of Autism Spectrum Disorder

To easily obtain the knowledge about autism spectrum disorder and help its early screening and diagnosis, we create AsdKB, a Chinese knowledge base on autism spectrum disorder. The knowledge base is built on top of various sources, including 1) the disease knowledge from SNOMED CT and ICD-10 clinical descriptions on mental and behavioural disorders, 2) the diagnostic knowledge from DSM-5 and different screening tools recommended by social organizations and medical institutes, and 3) the expert knowledge on professional physicians and hospitals from the Web. AsdKB contains both ontological and factual knowledge, and is accessible as Linked Data at https://w3id.org/asdkb/. The potential applications of AsdKB are question answering, auxiliary diagnosis, and expert recommendation, and we illustrate them with a prototype which can be accessed at http://asdkb.org.cn/.Comment: 17 pages, Accepted by the Resource Track of ISWC 202

iTools: A Framework for Classification, Categorization and Integration of Computational Biology Resources

The advancement of the computational biology field hinges on progress in three fundamental directions – the development of new computational algorithms, the availability of informatics resource management infrastructures and the capability of tools to interoperate and synergize. There is an explosion in algorithms and tools for computational biology, which makes it difficult for biologists to find, compare and integrate such resources. We describe a new infrastructure, iTools, for managing the query, traversal and comparison of diverse computational biology resources. Specifically, iTools stores information about three types of resources–data, software tools and web-services. The iTools design, implementation and resource meta - data content reflect the broad research, computational, applied and scientific expertise available at the seven National Centers for Biomedical Computing. iTools provides a system for classification, categorization and integration of different computational biology resources across space-and-time scales, biomedical problems, computational infrastructures and mathematical foundations. A large number of resources are already iTools-accessible to the community and this infrastructure is rapidly growing. iTools includes human and machine interfaces to its resource meta-data repository. Investigators or computer programs may utilize these interfaces to search, compare, expand, revise and mine meta-data descriptions of existent computational biology resources. We propose two ways to browse and display the iTools dynamic collection of resources. The first one is based on an ontology of computational biology resources, and the second one is derived from hyperbolic projections of manifolds or complex structures onto planar discs. iTools is an open source project both in terms of the source code development as well as its meta-data content. iTools employs a decentralized, portable, scalable and lightweight framework for long-term resource management. We demonstrate several applications of iTools as a framework for integrated bioinformatics. iTools and the complete details about its specifications, usage and interfaces are available at the iTools web page http://iTools.ccb.ucla.edu

Discovering lesser known molecular players and mechanistic patterns in Alzheimer's disease using an integrative disease modelling approach

Convergence of exponentially advancing technologies is driving medical research with life changing discoveries. On the contrary, repeated failures of high-profile drugs to battle Alzheimer's disease (AD) has made it one of the least successful therapeutic area. This failure pattern has provoked researchers to grapple with their beliefs about Alzheimer's aetiology. Thus, growing realisation that Amyloid-β and tau are not 'the' but rather 'one of the' factors necessitates the reassessment of pre-existing data to add new perspectives. To enable a holistic view of the disease, integrative modelling approaches are emerging as a powerful technique. Combining data at different scales and modes could considerably increase the predictive power of the integrative model by filling biological knowledge gaps. However, the reliability of the derived hypotheses largely depends on the completeness, quality, consistency, and context-specificity of the data. Thus, there is a need for agile methods and approaches that efficiently interrogate and utilise existing public data. This thesis presents the development of novel approaches and methods that address intrinsic issues of data integration and analysis in AD research. It aims to prioritise lesser-known AD candidates using highly curated and precise knowledge derived from integrated data. Here much of the emphasis is put on quality, reliability, and context-specificity. This thesis work showcases the benefit of integrating well-curated and disease-specific heterogeneous data in a semantic web-based framework for mining actionable knowledge. Furthermore, it introduces to the challenges encountered while harvesting information from literature and transcriptomic resources. State-of-the-art text-mining methodology is developed to extract miRNAs and its regulatory role in diseases and genes from the biomedical literature. To enable meta-analysis of biologically related transcriptomic data, a highly-curated metadata database has been developed, which explicates annotations specific to human and animal models. Finally, to corroborate common mechanistic patterns — embedded with novel candidates — across large-scale AD transcriptomic data, a new approach to generate gene regulatory networks has been developed. The work presented here has demonstrated its capability in identifying testable mechanistic hypotheses containing previously unknown or emerging knowledge from public data in two major publicly funded projects for Alzheimer's, Parkinson's and Epilepsy diseases

Integrative high-throughput study of arsenic hyper-accumulation in Pteris vittata

Arsenic is a natural contaminant in the soil and ground water, which raises considerable concerns in food safety and human health worldwide. The fernPteris vittata (Chinese brake fern) is the first identified arsenic hyperaccumulator[1]. It and its close relatives have un-paralleled ability to tolerant arsenic and feature unique arsenic metabolisms. The focus of the research presented in this thesis is to elucidate the fundamentals of arsenic tolerance and hyper-accumulation in Pteris vittata through high throughput technology and bioinformatics tools. The transcriptome of the P. vittatagametophyte under arsenate stress was obtained using RNA-Seq technology and Trinity de novo assembly. Functional annotation of the transcriptome was performed in terms of blast search, Gene Ontology term assignment, Eukaryotic Orthologous Groups (KOG) classification, and pathway analysis. Differentially expressed genes induced by arsenic stress were identified, which revealed several key players in arsenic hyper-accumulation. As part of the efforts to annotate differentially expressed genes, literature of plant arsenic tolerance was collected and built into a searchable database using the Textpresso text-mining tool, which greatly facilitates the retrieval of biological facts involving arsenic related gene. In addition, an SVM-based named-entity recognition system was constructed to identify new references to genes in literature. The results provide excellent sequence resources for arsenic tolerance study in P.vittata, and establish a platform for integrative study using data of multiple types

User-centered semantic dataset retrieval

Finding relevant research data is an increasingly important but time-consuming task in daily research practice. Several studies report on difficulties in dataset search, e.g., scholars retrieve only partial pertinent data, and important information can not be displayed in the user interface. Overcoming these problems has motivated a number of research efforts in computer science, such as text mining and semantic search. In particular, the emergence of the Semantic Web opens a variety of novel research perspectives. Motivated by these challenges, the overall aim of this work is to analyze the current obstacles in dataset search and to propose and develop a novel semantic dataset search. The studied domain is biodiversity research, a domain that explores the diversity of life, habitats and ecosystems. This thesis has three main contributions: (1) We evaluate the current situation in dataset search in a user study, and we compare a semantic search with a classical keyword search to explore the suitability of semantic web technologies for dataset search. (2) We generate a question corpus and develop an information model to figure out on what scientific topics scholars in biodiversity research are interested in. Moreover, we also analyze the gap between current metadata and scholarly search interests, and we explore whether metadata and user interests match. (3) We propose and develop an improved dataset search based on three components: (A) a text mining pipeline, enriching metadata and queries with semantic categories and URIs, (B) a retrieval component with a semantic index over categories and URIs and (C) a user interface that enables a search within categories and a search including further hierarchical relations. Following user centered design principles, we ensure user involvement in various user studies during the development process