Using distributional similarity to organise biomedical terminology

We investigate an application of distributional similarity techniques to the problem of structural organisation of biomedical terminology. Our application domain is the relatively small GENIA corpus. Using terms that have been accurately marked-up by hand within the corpus, we consider the problem of automatically determining semantic proximity. Terminological units are dened for our purposes as normalised classes of individual terms. Syntactic analysis of the corpus data is carried out using the Pro3Gres parser and provides the data required to calculate distributional similarity using a variety of dierent measures. Evaluation is performed against a hand-crafted gold standard for this domain in the form of the GENIA ontology. We show that distributional similarity can be used to predict semantic type with a good degree of accuracy

Infectious Disease Ontology

Technological developments have resulted in tremendous increases in the volume and diversity of the data and information that must be processed in the course of biomedical and clinical research and practice. Researchers are at the same time under ever greater pressure to share data and to take steps to ensure that data resources are interoperable. The use of ontologies to annotate data has proven successful in supporting these goals and in providing new possibilities for the automated processing of data and information. In this chapter, we describe different types of vocabulary resources and emphasize those features of formal ontologies that make them most useful for computational applications. We describe current uses of ontologies and discuss future goals for ontology-based computing, focusing on its use in the field of infectious diseases. We review the largest and most widely used vocabulary resources relevant to the study of infectious diseases and conclude with a description of the Infectious Disease Ontology (IDO) suite of interoperable ontology modules that together cover the entire infectious disease domain

Overview of the gene ontology task at BioCreative IV

Gene Ontology (GO) annotation is a common task among model organism databases (MODs) for capturing gene function data from journal articles. It is a time-consuming and labor-intensive task, and is thus often considered as one of the bottlenecks in literature curation. There is a growing need for semiautomated or fully automated GO curation techniques that will help database curators to rapidly and accurately identify gene function information in full-length articles. Despite multiple attempts in the past, few studies have proven to be useful with regard to assisting real-world GO curation. The shortage of sentence-level training data and opportunities for interaction between text-mining developers and GO curators has limited the advances in algorithm development and corresponding use in practical circumstances. To this end, we organized a text-mining challenge task for literature-based GO annotation in BioCreative IV. More specifically, we developed two subtasks: (i) to automatically locate text passages that contain GO-relevant information (a text retrieval task) and (ii) to automatically identify relevant GO terms for the genes in a given article (a concept-recognition task). With the support from five MODs, we provided teams with >4000 unique text passages that served as the basis for each GO annotation in our task data. Such evidence text information has long been recognized as critical for text-mining algorithm development but was never made available because of the high cost of curation. In total, seven teams participated in the challenge task. From the team results, we conclude that the state of the art in automatically mining GO terms from literature has improved over the past decade while much progress is still needed for computer-assisted GO curation. Future work should focus on addressing remaining technical challenges for improved performance of automatic GO concept recognition and incorporating practical benefits of text-mining tools into real-world GO annotation

Prediction of Metabolic Pathways Involvement in Prokaryotic UniProtKB Data by Association Rule Mining

The widening gap between known proteins and their functions has encouraged the development of methods to automatically infer annotations. Automatic functional annotation of proteins is expected to meet the conflicting requirements of maximizing annotation coverage, while minimizing erroneous functional assignments. This trade-off imposes a great challenge in designing intelligent systems to tackle the problem of automatic protein annotation. In this work, we present a system that utilizes rule mining techniques to predict metabolic pathways in prokaryotes. The resulting knowledge represents predictive models that assign pathway involvement to UniProtKB entries. We carried out an evaluation study of our system performance using cross-validation technique. We found that it achieved very promising results in pathway identification with an F1-measure of 0.982 and an AUC of 0.987. Our prediction models were then successfully applied to 6.2 million UniProtKB/TrEMBL reference proteome entries of prokaryotes. As a result, 663,724 entries were covered, where 436,510 of them lacked any previous pathway annotations

Semi-automated curation of protein subcellular localization: a text mining-based approach to Gene Ontology (GO) Cellular Component curation

Background: Manual curation of experimental data from the biomedical literature is an expensive and time-consuming endeavor. Nevertheless, most biological knowledge bases still rely heavily on manual curation for data extraction and entry. Text mining software that can semi- or fully automate information retrieval from the literature would thus provide a significant boost to manual curation efforts. Results: We employ the Textpresso category-based information retrieval and extraction system http://www.textpresso.org webcite, developed by WormBase to explore how Textpresso might improve the efficiency with which we manually curate C. elegans proteins to the Gene Ontology's Cellular Component Ontology. Using a training set of sentences that describe results of localization experiments in the published literature, we generated three new curation task-specific categories (Cellular Components, Assay Terms, and Verbs) containing words and phrases associated with reports of experimentally determined subcellular localization. We compared the results of manual curation to that of Textpresso queries that searched the full text of articles for sentences containing terms from each of the three new categories plus the name of a previously uncurated C. elegans protein, and found that Textpresso searches identified curatable papers with recall and precision rates of 79.1% and 61.8%, respectively (F-score of 69.5%), when compared to manual curation. Within those documents, Textpresso identified relevant sentences with recall and precision rates of 30.3% and 80.1% (F-score of 44.0%). From returned sentences, curators were able to make 66.2% of all possible experimentally supported GO Cellular Component annotations with 97.3% precision (F-score of 78.8%). Measuring the relative efficiencies of Textpresso-based versus manual curation we find that Textpresso has the potential to increase curation efficiency by at least 8-fold, and perhaps as much as 15-fold, given differences in individual curatorial speed. Conclusion: Textpresso is an effective tool for improving the efficiency of manual, experimentally based curation. Incorporating a Textpresso-based Cellular Component curation pipeline at WormBase has allowed us to transition from strictly manual curation of this data type to a more efficient pipeline of computer-assisted validation. Continued development of curation task-specific Textpresso categories will provide an invaluable resource for genomics databases that rely heavily on manual curation

The what, where, how and why of gene ontology—a primer for bioinformaticians

With high-throughput technologies providing vast amounts of data, it has become more important to provide systematic, quality annotations. The Gene Ontology (GO) project is the largest resource for cataloguing gene function. Nonetheless, its use is not yet ubiquitous and is still fraught with pitfalls. In this review, we provide a short primer to the GO for bioinformaticians. We summarize important aspects of the structure of the ontology, describe sources and types of functional annotations, survey measures of GO annotation similarity, review typical uses of GO and discuss other important considerations pertaining to the use of GO in bioinformatics applications

A benchmark for biomedical knowledge graph based similarity

Tese de mestrado em Bioinformática e Biologia Computacional, Universidade de Lisboa, Faculdade de Ciências, 2020Os grafos de conhecimento biomédicos são cruciais para sustentar aplicações em grandes quantidades de dados nas ciências da vida e saúde. Uma das aplicações mais comuns dos grafos de conhecimento nas ciências da vida é o apoio à comparação de entidades no grafo por meio das suas descrições ontológicas. Estas descrições suportam o cálculo da semelhança semântica entre duas entidades, e encontrar as suas semelhanças e diferenças é uma técnica fundamental para diversas aplicações, desde a previsão de interações proteína-proteína até à descoberta de associações entre doenças e genes, a previsão da localização celular de proteínas, entre outros. Na última década, houve um esforço considerável no desenvolvimento de medidas de semelhança semântica para grafos de conhecimento biomédico mas, até agora, a investigação nessa área tem-se concentrado na comparação de conjuntos de entidades relativamente pequenos. Dada a diversa gama de aplicações para medidas de semelhança semântica, é essencial apoiar a avaliação em grande escala destas medidas. No entanto, fazê-lo não é trivial, uma vez que não há um padrão ouro para a semelhança de entidades biológicas. Uma solução possível é comparar estas medidas com outras medidas ou proxies de semelhança. As entidades biológicas podem ser comparadas através de diferentes ângulos, por exemplo, a semelhança de sequência e estrutural de duas proteínas ou as vias metabólicas afetadas por duas doenças. Estas medidas estão relacionadas com as características relevantes das entidades, portanto podem ajudar a compreender como é que as abordagens de semelhança semântica capturam a semelhança das entidades. O objetivo deste trabalho é desenvolver um benchmark, composto por data sets e métodos de avaliação automatizados. Este benchmark deve sustentar a avaliação em grande escala de medidas de semelhança semântica para entidades biológicas, com base na sua correlação com diferentes propriedades das entidades. Para atingir este objetivo, uma metodologia para o desenvolvimento de data sets de referência para semelhança semântica foi desenvolvida e aplicada a dois grafos de conhecimento: proteínas anotadas com a Gene Ontology e genes anotados com a Human Phenotype Ontology. Este benchmark explora proxies de semelhança com base na semelhança de sequência, função molecular e interações de proteínas e semelhança de genes baseada em fenótipos, e fornece cálculos de semelhança semântica com medidas representativas do estado da arte, para uma avaliação comparativa. Isto resultou num benchmark composto por uma coleção de 21 data sets de referência com tamanhos variados, cobrindo quatro espécies e diferentes níveis de anotação das entidades, e técnicas de avaliação ajustadas aos data sets.Biomedical knowledge graphs are crucial to support data intensive applications in the life sciences and healthcare. One of the most common applications of knowledge graphs in the life sciences is to support the comparison of entities in the graph through their ontological descriptions. These descriptions support the calculation of semantic similarity between two entities, and finding their similarities and differences is a cornerstone technique for several applications, ranging from prediction of protein-protein interactions to the discovering of associations between diseases and genes, the prediction of cellular localization of proteins, among others. In the last decade there has been a considerable effort in developing semantic similarity measures for biomedical knowledge graphs, but the research in this area has so far focused on the comparison of relatively small sets of entities. Given the wide range of applications for semantic similarity measures, it is essential to support the large-scale evaluation of these measures. However, this is not trivial since there is no gold standard for biological entity similarity. One possible solution is to compare these measures to other measures or proxies of similarity. Biological entities can be compared through different lenses, for instance the sequence and structural similarity of two proteins or the metabolic pathways affected by two diseases. These measures relate to relevant characteristics of the underlying entities, so they can help to understand how well semantic similarity approaches capture entity similarity. The goal of this work is to develop a benchmark for semantic similarity measures, composed of data sets and automated evaluation methods. This benchmark should support the large-scale evaluation of semantic similarity measures for biomedical entities, based on their correlation to different properties of biological entities. To achieve this goal, a methodology for the development of benchmark data sets for semantic similarity was developed and applied to two knowledge graphs: proteins annotated with the Gene Ontology and genes annotated with the Human Phenotype Ontology. This benchmark explores proxies of similarity calculated based on protein sequence similarity, protein molecular function similarity, protein-protein interactions and phenotype-based gene similarity, and provides semantic similarity computations with state-of-the-art representative measures, for a comparative evaluation of the measures. This resulted in a benchmark made up of a collection of 21 benchmark data sets with varying sizes, covering four different species at different levels of annotation completion and evaluation techniques fitted to the data sets characteristics