eVOC: a controlled vocabulary for unifying gene expression data.

Expression data contribute significantly to the biological value of the sequenced human genome, providing extensive information about gene structure and the pattern of gene expression. ESTs, together with SAGE libraries and microarray experiment information, provide a broad and rich view of the transcriptome. However, it is difficult to perform large-scale expression mining of the data generated by these diverse experimental approaches. Not only is the data stored in disparate locations, but there is frequent ambiguity in the meaning of terms used to describe the source of the material used in the experiment. Untangling semantic differences between the data provided by different resources is therefore largely reliant on the domain knowledge of a human expert. We present here eVOC, a system which associates labelled target cDNAs for microarray experiments, or cDNA libraries and their associated transcripts with controlled terms in a set of hierarchical vocabularies. eVOC consists of four orthogonal controlled vocabularies suitable for describing the domains of human gene expression data including Anatomical System, Cell Type, Pathology and Developmental Stage. We have curated and annotated 7016 cDNA libraries represented in dbEST, as well as 104 SAGE libraries,with expression information,and provide this as an integrated, public resource that allows the linking of transcripts and libraries with expression terms. Both the vocabularies and the vocabulary-annotated libraries can be retrieved from http://www.sanbi.ac.za/evoc/. Several groups are involved in developing this resource with the aim of unifying transcript expression information.

Implementing Widely-used Vocabularies to Produce Linked Open Data in the Context of Open Repositories

Presentation at Open Repositories 2014, Helsinki, Finland, June 9-13, 2014

Harmonization Of Vocabularies For Water Data

Observational data encodes values of properties associated with a feature of interest, estimated by a specified procedure. For water the properties are physical parameters like level, volume, flow and pressure, and concentrations and counts of chemicals, substances and organisms. Water property vocabularies have been assembled at project, agency and jurisdictional level. Organizations such as EPA, USGS, CEH, GA and BoM maintain vocabularies for internal use, and may make them available externally as text files. BODC and MMI have harvested many water vocabularies alongside others of interest in their domain, formalized the content using SKOS, and published them through web interfaces. Scope is highly variable both within and between vocabularies. Individual items may conflate multiple concerns (e.g. property, instrument, statistical procedure, units). There is significant duplication between vocabularies. Semantic web technologies provide the opportunity both to publish vocabularies more effectively, and achieve harmonization to support greater interoperability between datasets. - Models for vocabulary items (property, substance/taxon, process, unit-of-measure, etc) may be formalized OWL ontologies, supporting semantic relations between items in related vocabularies; - By specializing the ontology elements from SKOS concepts and properties, diverse vocabularies may be published through a common interface; - Properties from standard vocabularies (e.g. OWL, SKOS, PROV-O and VAEM) support mappings between vocabularies having a similar scope - Existing items from various sources may be assembled into new virtual vocabularies However, there are a number of challenges: - use of standard properties such as sameAs/exactMatch/equivalentClass require reasoning support; - items have been conceptualised as both classes and individuals, complicating the mapping mechanics; - re-use of items across vocabularies may conflict with expectations concerning URI patterns; - versioning complicates cross-references and re-use. This presentation will discuss ways to harness semantic web technologies to publish harmonized vocabularies, and will summarise how many of the challenges may be addressed.

Controlled Vocabulary Enhancement through Crowdsourcing: Project Andvari, Micropasts, and Public Quality Assurance

Proceedings paper published by Society of American Archivists. Presented at conference in 2015 in Cleveland, OH (http://www2.archivists.org/proceedings/research-forum/2015/agenda#papers). Published by SAA in 2016.

Semantic enrichment of knowledge sources supported by domain ontologies

This thesis introduces a novel conceptual framework to support the creation of knowledge representations based on enriched Semantic Vectors, using the classical vector space model approach extended with ontological support. One of the primary research challenges addressed here relates to the process of formalization and representation of document contents, where most existing approaches are limited and only take into account the explicit, word-based information in the document. This research explores how traditional knowledge representations can be enriched through incorporation of implicit information derived from the complex relationships (semantic associations) modelled by domain ontologies with the addition of information presented in documents. The relevant achievements pursued by this thesis are the following: (i) conceptualization of a model that enables the semantic enrichment of knowledge sources supported by domain experts; (ii) development of a method for extending the traditional vector space, using domain ontologies; (iii) development of a method to support ontology learning, based on the discovery of new ontological relations expressed in non-structured information sources; (iv) development of a process to evaluate the semantic enrichment; (v) implementation of a proof-of-concept, named SENSE (Semantic Enrichment kNowledge SourcEs), which enables to validate the ideas established under the scope of this thesis; (vi) publication of several scientific articles and the support to 4 master dissertations carried out by the department of Electrical and Computer Engineering from FCT/UNL. It is worth mentioning that the work developed under the semantic referential covered by this thesis has reused relevant achievements within the scope of research European projects, in order to address approaches which are considered scientifically sound and coherent and avoid “reinventing the wheel”.

OSIRISv1.2: a named entity recognition system for sequence variants of genes in biomedical literature

Background: Single Nucleotide Polymorphisms, among other type of sequence variants, constitute key elements in genetic epidemiology and pharmacogenomics. While sequence data about genetic variation is found at databases such as dbSNP, clues about the functional and phenotypic consequences of the variations are generally found in biomedical literature. The identification of the relevant documents and the extraction of the information from them are hampered by the large size of literature databases and the lack of widely accepted standard notation for biomedical entities. Thus, automatic systems for the identification of citations of allelic variants of genes in biomedical texts are required. Results: Our group has previously reported the development of OSIRIS, a system aimed at the retrieval of literature about allelic variants of genes http://ibi.imim.es/osirisform.html. Here we describe the development of a new version of OSIRIS (OSIRISv1.2, http://ibi.imim.es/OSIRISv1.2.html webcite) which incorporates a new entity recognition module and is built on top of a local mirror of the MEDLINE collection and HgenetInfoDB: a database that collects data on human gene sequence variations. The new entity recognition module is based on a pattern-based search algorithm for the identification of variation terms in the texts and their mapping to dbSNP identifiers. The performance of OSIRISv1.2 was evaluated on a manually annotated corpus, resulting in 99% precision, 82% recall, and an F-score of 0.89. As an example, the application of the system for collecting literature citations for the allelic variants of genes related to the diseases intracranial aneurysm and breast cancer is presented. Conclusion: OSIRISv1.2 can be used to link literature references to dbSNP database entries with high accuracy, and therefore is suitable for collecting current knowledge on gene sequence variations and supporting the functional annotation of variation databases. The application of OSIRISv1.2 in combination with controlled vocabularies like MeSH provides a way to identify associations of biomedical interest, such as those that relate SNPs with diseases.

The Gene Ontology: enhancements for 2011.

The Gene Ontology (GO) (http://www.geneontology.org) is a community bioinformatics resource that represents gene product function through the use of structured, controlled vocabularies. The number of GO annotations of gene products has increased due to curation efforts among GO Consortium (GOC) groups, including focused literature-based annotation and ortholog-based functional inference. The GO ontologies continue to expand and improve as a result of targeted ontology development, including the introduction of computable logical definitions and development of new tools for the streamlined addition of terms to the ontology. The GOC continues to support its user community through the use of e-mail lists, social media and web-based resources.

Is the ATIC terminology oriented to nursing phenomena?

The main goal of this observational and descriptive study is to evaluate whether the diagnosis axis of a nursing interface terminology meets the content validity criterion of being nursing-phenomena oriented. Nursing diagnosis concepts were analyzed in terms of presence in the nursing literature, type of articles published and areas of disciplinary interest. The search strategy was conducted in three databases with limits in relation to period and languages. The final analysis included 287 nursing diagnosis concepts. The results showed that most of the concepts were identified in the scientific literature, with a homogeneous distribution of types of designs. Most of these concepts (87.7%) were studied from two or more areas of disciplinary interest. Validity studies on disciplinary controlled vocabularies may contribute to demonstrate the nursing influence on patients" outcomes.

The Gene Ontology in 2010: extensions and refinements.

The Gene Ontology (GO) Consortium (http://www.geneontology.org) (GOC) continues to develop, maintain and use a set of structured, controlled vocabularies for the annotation of genes, gene products and sequences. The GO ontologies are expanding both in content and in structure. Several new relationship types have been introduced and used, along with existing relationships, to create links between and within the GO domains. These improve the representation of biology, facilitate querying, and allow GO developers to systematically check for and correct inconsistencies within the GO. Gene product annotation using GO continues to increase both in the number of total annotations and in species coverage. GO tools, such as OBO-Edit, an ontology-editing tool, and AmiGO, the GOC ontology browser, have seen major improvements in functionality, speed and ease of use.

A nursing interface terminology: evaluation of face validity

A range of different language systems for nursing diagnosis, interventions and outcomes are currently available. Nursing terminologies are intended to support nursing practice but they have to be evaluated. This study aims to assess the results of an expert survey to establish the face validity of a nursing interface terminology. The study applied a descriptive design with a cross-sectional survey strategy using a written questionnaire administered to expert nurses working in hospitals. Sample size was estimated at 35 participants. The questionnaire included topics related to validity and reliability criteria for nursing controlled vocabularies described in the literature. Mean global score and criteria scoring at least 7 were considered main outcome measures. The analysis included descriptive statistics with a confidence level of 95%. The mean global score was 8.1. The mean score for the validity criteria was 8.4 and 7.8 for reliability and applicability criteria. Two of the criteria for reliability and applicability evaluation did not achieve minimum scores. According to the experts" responses, this terminology meets face validity, but that improvements are required in some criteria and further research is needed to completely demonstrate its metric properties.

Mapping the diagnosis axis of an interface terminology to the NANDA International Taxonomy

Background: Nursing terminologies are designed to support nursing practice but, as with any other clinical tool, they should be evaluated. Cross-mapping is a formal method for examining the validity of the existing controlled vocabularies. Objectives: The study aims to assess the inclusiveness and expressiveness of the nursing diagnosis axis of a newly implemented interface terminology by cross-mapping with the NANDA-I taxonomy. Design/Methods: The study applied a descriptive design, using a cross-sectional, bidirectional mapping strategy. The sample included 728 concepts from both vocabularies. Concept cross-mapping was carried out to identify one-to-one, negative, and hierarchical connections. The analysis was conducted using descriptive statistics. Results: Agreement of the raters" mapping achieved 97%. More than 60% of the nursing diagnosis concepts in the NANDA-I taxonomy were mapped to concepts in the diagnosis axis of the new interface terminology; 71.1% were reversely mapped. Conclusions: Main results for outcome measures suggest that the diagnosis axis of this interface terminology meets the validity criterion of cross-mapping when mapped from and to the NANDA-I taxonomy.

From Local Practice to Linked Open Data: Rethinking Metadata in Hydra

Presentation at Open Repositories 2014, Helsinki, Finland, June 9-13, 2014

GIS in Digital Repositories

Workshop at Open Repositories 2014, Helsinki, Finland, June 9-13, 2014

Current State of Repository Interoperability: Work by the Confederation of Open Access Repositories (COAR)

Panel at Open Repositories 2014, Helsinki, Finland, June 9-13, 2014

AOD 2.0: A category based submission add-on for DSpace 4.0

Presentation at Open Repositories 2014, Helsinki, Finland, June 9-13, 2014