133 research outputs found

    The Drosophila anatomy ontology.

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    BACKGROUND: Anatomy ontologies are query-able classifications of anatomical structures. They provide a widely-used means for standardising the annotation of phenotypes and expression in both human-readable and programmatically accessible forms. They are also frequently used to group annotations in biologically meaningful ways. Accurate annotation requires clear textual definitions for terms, ideally accompanied by images. Accurate grouping and fruitful programmatic usage requires high-quality formal definitions that can be used to automate classification and check for errors. The Drosophila anatomy ontology (DAO) consists of over 8000 classes with broad coverage of Drosophila anatomy. It has been used extensively for annotation by a range of resources, but until recently it was poorly formalised and had few textual definitions. RESULTS: We have transformed the DAO into an ontology rich in formal and textual definitions in which the majority of classifications are automated and extensive error checking ensures quality. Here we present an overview of the content of the DAO, the patterns used in its formalisation, and the various uses it has been put to. CONCLUSIONS: As a result of the work described here, the DAO provides a high-quality, queryable reference for the wild-type anatomy of Drosophila melanogaster and a set of terms to annotate data related to that anatomy. Extensive, well referenced textual definitions make it both a reliable and useful reference and ensure accurate use in annotation. Wide use of formal axioms allows a large proportion of classification to be automated and the use of consistency checking to eliminate errors. This increased formalisation has resulted in significant improvements to the completeness and accuracy of classification. The broad use of both formal and informal definitions make further development of the ontology sustainable and scalable. The patterns of formalisation used in the DAO are likely to be useful to developers of other anatomy ontologies

    The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse

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    The Mouse Genome Database (MGD, http://www.informatics.jax.org) is the international community resource for integrated genetic, genomic and biological data about the laboratory mouse. Data in MGD are obtained through loads from major data providers and experimental consortia, electronic submissions from laboratories and from the biomedical literature. MGD maintains a comprehensive, unified, non-redundant catalog of mouse genome features generated by distilling gene predictions from NCBI, Ensembl and VEGA. MGD serves as the authoritative source for the nomenclature of mouse genes, mutations, alleles and strains. MGD is the primary source for evidence-supported functional annotations for mouse genes and gene products using the Gene Ontology (GO). MGD provides full annotation of phenotypes and human disease associations for mouse models (genotypes) using terms from the Mammalian Phenotype Ontology and disease names from the Online Mendelian Inheritance in Man (OMIM) resource. MGD is freely accessible online through our website, where users can browse and search interactively, access data in bulk using Batch Query or BioMart, download data files or use our web services Application Programming Interface (API). Improvements to MGD include expanded genome feature classifications, inclusion of new mutant allele sets and phenotype associations and extensions of GO to include new relationships and a new stream of annotations via phylogenetic-based approaches

    Mouse Genome Informatics (MGI): latest news from MGD and GXD.

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    The Mouse Genome Informatics (MGI) database system combines multiple expertly curated community data resources into a shared knowledge management ecosystem united by common metadata annotation standards. MGI\u27s mission is to facilitate the use of the mouse as an experimental model for understanding the genetic and genomic basis of human health and disease. MGI is the authoritative source for mouse gene, allele, and strain nomenclature and is the primary source of mouse phenotype annotations, functional annotations, developmental gene expression information, and annotations of mouse models with human diseases. MGI maintains mouse anatomy and phenotype ontologies and contributes to the development of the Gene Ontology and Disease Ontology and uses these ontologies as standard terminologies for annotation. The Mouse Genome Database (MGD) and the Gene Expression Database (GXD) are MGI\u27s two major knowledgebases. Here, we highlight some of the recent changes and enhancements to MGD and GXD that have been implemented in response to changing needs of the biomedical research community and to improve the efficiency of expert curation. MGI can be accessed freely at http://www.informatics.jax.org

    Mouse Genome Database (MGD) 2019.

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    The Mouse Genome Database (MGD; http://www.informatics.jax.org) is the community model organism genetic and genome resource for the laboratory mouse. MGD is the authoritative source for biological reference data sets related to mouse genes, gene functions, phenotypes, and mouse models of human disease. MGD is the primary outlet for official gene, allele and mouse strain nomenclature based on the guidelines set by the International Committee on Standardized Nomenclature for Mice. In this report we describe significant enhancements to MGD, including two new graphical user interfaces: (i) the Multi Genome Viewer for exploring the genomes of multiple mouse strains and (ii) the Phenotype-Gene Expression matrix which was developed in collaboration with the Gene Expression Database (GXD) and allows researchers to compare gene expression and phenotype annotations for mouse genes. Other recent improvements include enhanced efficiency of our literature curation processes and the incorporation of Transcriptional Start Site (TSS) annotations from RIKEN\u27s FANTOM 5 initiative

    The Drosophila phenotype ontology

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    Technologies to enhance self-directed learning from hypertext

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    With the growing popularity of the World Wide Web, materials presented to learners in the form of hypertext have become a major instructional resource. Despite the potential of hypertext to facilitate access to learning materials, self-directed learning from hypertext is often associated with many concerns. Self-directed learners, due to their different viewpoints, may follow different navigation paths, and thus they will have different interactions with knowledge. Therefore, learners can end up being disoriented or cognitively-overloaded due to the potential gap between what they need and what actually exists on the Web. In addition, while a lot of research has gone into supporting the task of finding web resources, less attention has been paid to the task of supporting the interpretation of Web pages. The inability to interpret the content of pages leads learners to interrupt their current browsing activities to seek help from other human resources or explanatory learning materials. Such activity can weaken learner engagement and lower their motivation to learn. This thesis aims to promote self-directed learning from hypertext resources by proposing solutions to the above problems. It first presents Knowledge Puzzle, a tool that proposes a constructivist approach to learn from the Web. Its main contribution to Web-based learning is that self-directed learners will be able to adapt the path of instruction and the structure of hypertext to their way of thinking, regardless of how the Web content is delivered. This can effectively reduce the gap between what they need and what exists on the Web. SWLinker is another system proposed in this thesis with the aim of supporting the interpretation of Web pages using ontology based semantic annotation. It is an extension to the Internet Explorer Web browser that automatically creates a semantic layer of explanatory information and instructional guidance over Web pages. It also aims to break the conventional view of Web browsing as an individual activity by leveraging the notion of ontology-based collaborative browsing. Both of the tools presented in this thesis were evaluated by students within the context of particular learning tasks. The results show that they effectively fulfilled the intended goals by facilitating learning from hypertext without introducing high overheads in terms of usability or browsing efforts

    Advancing methods for research on household water insecurity: Studying entitlements and capabilities, socio-cultural dynamics, and political processes, institutions and governance

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    © 2017 Elsevier B.V. Household water insecurity has serious implications for the health, livelihoods and wellbeing of people around the world. Existing methods to assess the state of household water insecurity focus largely on water quality, quantity or adequacy, source or reliability, and affordability. These methods have significant advantages in terms of their simplicity and comparability, but are widely recognized to oversimplify and underestimate the global burden of household water insecurity. In contrast, a broader definition of household water insecurity should include entitlements and human capabilities, socio-cultural dynamics, and political institutions and processes. This paper proposes a mix of qualitative and quantitative methods that can be widely adopted across cultural, geographic, and demographic contexts to assess hard-to-measure dimensions of household water insecurity. In doing so, it critically evaluates existing methods for assessing household water insecurity and suggests ways in which methodological innovations advance a broader definition of household water insecurity

    From bits to bites: Advancement of the Germinate platform to support prebreeding informatics for crop wild relatives

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    Management and distribution of experimental data from prebreeding projects is important to ensure uptake of germplasm into breeding and research programs. Being able to access and share this data in standard formats is essential. The adoption of a common informatics platform for crops that may have limited resources brings economies of scale, allowing common informatics components to be used across multiple species. The close integration of such a platform with commonly used breeding software, visualization, and analysis tools reduces the barrier for entry to researchers and provides a common framework to facilitate collaborations and data sharing. This work presents significant updates to the Germinate platform and highlights its value in distributing prebreeding data for 14 crops as part of the project ‘Adapting Agriculture to Climate Change: Collecting, Protecting and Preparing Crop Wild Relatives’ (hereafter Crop Trust Crop Wild Relatives project) led by the Crop Trust (https://www.cwrdiversity.org). The addition of data on these species compliments data already publicly available in Germinate. We present a suite of updated Germinate features using examples from these crop species and their wild relatives. The use of Germinate within the Crop TrustCropWildRelatives project demonstrates the usefulness of the system and the benefits a shared informatics platform provides. These data resources provide a foundation on which breeding and research communities can develop additional online resources for their crops, harness new data as it becomes available, and benefit collectively from future developments of the Germinate platform
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