Dataset Information

Ontology based text mining of gene-phenotype associations: application to candidate gene prediction.

ABSTRACT: Gene-phenotype associations play an important role in understanding the disease mechanisms which is a requirement for treatment development. A portion of gene-phenotype associations are observed mainly experimentally and made publicly available through several standard resources such as MGI. However, there is still a vast amount of gene-phenotype associations buried in the biomedical literature. Given the large amount of literature data, we need automated text mining tools to alleviate the burden in manual curation of gene-phenotype associations and to develop comprehensive resources. In this study, we present an ontology-based approach in combination with statistical methods to text mine gene-phenotype associations from the literature. Our method achieved AUC values of 0.90 and 0.75 in recovering known gene-phenotype associations from HPO and MGI respectively. We posit that candidate genes and their relevant diseases should be expressed with similar phenotypes in publications. Thus, we demonstrate the utility of our approach by predicting disease candidate genes based on the semantic similarities of phenotypes associated with genes and diseases. To the best of our knowledge, this is the first study using an ontology based approach to extract gene-phenotype associations from the literature. We evaluated our disease candidate prediction model on the gene-disease associations from MGI. Our model achieved AUC values of 0.90 and 0.87 on OMIM (human) and MGI (mouse) datasets of gene-disease associations respectively. Our manual analysis on the text mined data revealed that our method can accurately extract gene-phenotype associations which are not currently covered by the existing public gene-phenotype resources. Overall, results indicate that our method can precisely extract known as well as new gene-phenotype associations from literature. All the data and methods are available at https://github.com/bio-ontology-research-group/genepheno.

SUBMITTER: Kafkas S

PROVIDER: S-EPMC6391585 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Ontology based text mining of gene-phenotype associations: application to candidate gene prediction.

Kafkas Şenay Ş Hoehndorf Robert R

Database : the journal of biological databases and curation 20190101

Gene-phenotype associations play an important role in understanding the disease mechanisms which is a requirement for treatment development. A portion of gene-phenotype associations are observed mainly experimentally and made publicly available through several standard resources such as MGI. However, there is still a vast amount of gene-phenotype associations buried in the biomedical literature. Given the large amount of literature data, we need automated text mining tools to alleviate the burde ...[more]

PMID: 30809638

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Project description:Analysing the relationships between biomolecules and the genetic diseases is a highly active area of research, where the aim is to identify the genes and their products that cause a particular disease due to functional changes originated from mutations. Biological ontologies are frequently employed in these studies, which provides researchers with extensive opportunities for knowledge discovery through computational data analysis. In this study, a novel approach is proposed for the identification of relationships between biomedical entities by automatically mapping phenotypic abnormality defining HPO terms with biomolecular function defining GO terms, where each association indicates the occurrence of the abnormality due to the loss of the biomolecular function expressed by the corresponding GO term. The proposed HPO2GO mappings were extracted by calculating the frequency of the co-annotations of the terms on the same genes/proteins, using already existing curated HPO and GO annotation sets. This was followed by the filtering of the unreliable mappings that could be observed due to chance, by statistical resampling of the co-occurrence similarity distributions. Furthermore, the biological relevance of the finalized mappings were discussed over selected cases, using the literature. The resulting HPO2GO mappings can be employed in different settings to predict and to analyse novel gene/protein-ontology term-disease relations. As an application of the proposed approach, HPO term-protein associations (i.e., HPO2protein) were predicted. In order to test the predictive performance of the method on a quantitative basis, and to compare it with the state-of-the-art, CAFA2 challenge HPO prediction target protein set was employed. The results of the benchmark indicated the potential of the proposed approach, as HPO2GO performance was among the best (Fmax = 0.35). The automated cross ontology mapping approach developed in this work may be extended to other ontologies as well, to identify unexplored relation patterns at the systemic level. The datasets, results and the source code of HPO2GO are available for download at: https://github.com/cansyl/HPO2GO.

Project description:BackgroundManual 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.ResultsWe employ the Textpresso category-based information retrieval and extraction system (http://www.textpresso.org), 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.ConclusionTextpresso 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.

Project description:BackgroundA large volume of data and information about genes and gene products has been stored in various molecular biology databases. A major challenge for knowledge discovery using these databases is to identify related genes and gene products in disparate databases. The development of Gene Ontology (GO) as a common vocabulary for annotation allows integrated queries across multiple databases and identification of semantically related genes and gene products (i.e., genes and gene products that have similar GO annotations). Meanwhile, dozens of tools have been developed for browsing, mining or editing GO terms, their hierarchical relationships, or their "associated" genes and gene products (i.e., genes and gene products annotated with GO terms). Tools that allow users to directly search and inspect relations among all GO terms and their associated genes and gene products from multiple databases are needed.ResultsWe present a standalone package called DynGO, which provides several advanced functionalities in addition to the standard browsing capability of the official GO browsing tool (AmiGO). DynGO allows users to conduct batch retrieval of GO annotations for a list of genes and gene products, and semantic retrieval of genes and gene products sharing similar GO annotations. The result are shown in an association tree organized according to GO hierarchies and supported with many dynamic display options such as sorting tree nodes or changing orientation of the tree. For GO curators and frequent GO users, DynGO provides fast and convenient access to GO annotation data. DynGO is generally applicable to any data set where the records are annotated with GO terms, as illustrated by two examples.ConclusionWe have presented a standalone package DynGO that provides functionalities to search and browse GO and its association databases as well as several additional functions such as batch retrieval and semantic retrieval. The complete documentation and software are freely available for download from the website http://biocreative.ifsm.umbc.edu/dyngo.

Dataset Information

Ontology based text mining of gene-phenotype associations: application to candidate gene prediction.

Publications

Ontology based text mining of gene-phenotype associations: application to candidate gene prediction.

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