Dataset Information

Gene ontology concept recognition using named concept: understanding the various presentations of the gene functions in biomedical literature.

ABSTRACT: OBJECTIVE:A major challenge in precision medicine is the development of patient-specific genetic biomarkers or drug targets. The firsthand information of the genes associated with the pathologic pathways of interest is buried in the ocean of biomedical literature. Gene ontology concept recognition (GOCR) is a biomedical natural language processing task used to extract and normalize the mentions of gene ontology (GO), the controlled vocabulary for gene functions across many species, from biomedical text. The previous GOCR systems, using either rule-based or machine-learning methods, treated GO concepts as separate terms and did not have an efficient way of sharing the common synonyms among the concepts. MATERIALS AND METHODS:We used the CRAFT corpus in this study. Targeting the compositional structure of the GO, we introduced named concept, the basic conceptual unit which has a conserved name and is used in other complex concepts. Using the named concepts, we separated the GOCR task into dictionary-matching and machine-learning steps. By harvesting the surface names used in the training data, we wildly boosted the synonyms of GO concepts via the connection of the named concepts and then enhanced the capability to recognize more GO concepts in the text. The source code is available athttps://github.com/jeroyang/ncgocr. RESULTS:Named concept gene ontology concept recognizer (NCGOCR) achieved 0.804 precision and 0.715 recall by correct recognition of the non-standard mentions of the GO concepts. DISCUSSION:The lack of consensus on GO naming causes diversity in the GO mentions in biomedical manuscripts. The high performance is owed to the stability of the composing GO concepts and the lack of variance in the spelling of named concepts. CONCLUSION:NCGOCR reduced the arduous work of GO annotation and amended the process of searching for the biomarkers or drug targets, leading to improved biomarker development and greater success in precision medicine.

SUBMITTER: Yang CJ

PROVIDER: S-EPMC6204799 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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Gene ontology concept recognition using named concept: understanding the various presentations of the gene functions in biomedical literature.

Yang Chia-Jung CJ Chiang Jung-Hsien JH

Database : the journal of biological databases and curation 20180101

<h4>Objective</h4>A major challenge in precision medicine is the development of patient-specific genetic biomarkers or drug targets. The firsthand information of the genes associated with the pathologic pathways of interest is buried in the ocean of biomedical literature. Gene ontology concept recognition (GOCR) is a biomedical natural language processing task used to extract and normalize the mentions of gene ontology (GO), the controlled vocabulary for gene functions across many species, from ...[more]

PMID: 30376045

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Project description:BackgroundSingle 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.ResultsOur 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) 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.ConclusionOSIRISv1.2 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.

Project description:MotivationThe explosive increase of biomedical literature has made information extraction an increasingly important tool for biomedical research. A fundamental task is the recognition of biomedical named entities in text (BNER) such as genes/proteins, diseases and species. Recently, a domain-independent method based on deep learning and statistical word embeddings, called long short-term memory network-conditional random field (LSTM-CRF), has been shown to outperform state-of-the-art entity-specific BNER tools. However, this method is dependent on gold-standard corpora (GSCs) consisting of hand-labeled entities, which tend to be small but highly reliable. An alternative to GSCs are silver-standard corpora (SSCs), which are generated by harmonizing the annotations made by several automatic annotation systems. SSCs typically contain more noise than GSCs but have the advantage of containing many more training examples. Ideally, these corpora could be combined to achieve the benefits of both, which is an opportunity for transfer learning. In this work, we analyze to what extent transfer learning improves upon state-of-the-art results for BNER.ResultsWe demonstrate that transferring a deep neural network (DNN) trained on a large, noisy SSC to a smaller, but more reliable GSC significantly improves upon state-of-the-art results for BNER. Compared to a state-of-the-art baseline evaluated on 23 GSCs covering four different entity classes, transfer learning results in an average reduction in error of approximately 11%. We found transfer learning to be especially beneficial for target datasets with a small number of labels (approximately 6000 or less).Availability and implementationSource code for the LSTM-CRF is available at https://github.com/Franck-Dernoncourt/NeuroNER/ and links to the corpora are available at https://github.com/BaderLab/Transfer-Learning-BNER-Bioinformatics-2018/.Supplementary informationSupplementary data are available at Bioinformatics online.

Project description:Increased interest in the use of word embeddings, such as word representation, for biomedical named entity recognition (BioNER) has highlighted the need for evaluations that aid in selecting the best word embedding to be used. One common criterion for selecting a word embedding is the type of source from which it is generated; that is, general (e.g., Wikipedia, Common Crawl), or specific (e.g., biomedical literature). Using specific word embeddings for the BioNER task has been strongly recommended, considering that they have provided better coverage and semantic relationships among medical entities. To the best of our knowledge, most studies have focused on improving BioNER task performance by, on the one hand, combining several features extracted from the text (for instance, linguistic, morphological, character embedding, and word embedding itself) and, on the other, testing several state-of-the-art named entity recognition algorithms. The latter, however, do not pay great attention to the influence of the word embeddings, and do not facilitate observing their real impact on the BioNER task. For this reason, the present study evaluates three well-known NER algorithms (CRF, BiLSTM, BiLSTM-CRF) with respect to two corpora (DrugBank and MedLine) using two classic word embeddings, GloVe Common Crawl (of the general type) and Pyysalo PM + PMC (specific), as unique features. Furthermore, three contextualized word embeddings (ELMo, Pooled Flair, and Transformer) are compared in their general and specific versions. The aim is to determine whether general embeddings can perform better than specialized ones on the BioNER task. To this end, four experiments were designed. In the first, we set out to identify the combination of classic word embedding, NER algorithm, and corpus that results in the best performance. The second evaluated the effect of the size of the corpus on performance. The third assessed the semantic cohesiveness of the classic word embeddings and their correlation with respect to several gold standards; while the fourth evaluates the performance of general and specific contextualized word embeddings on the BioNER task. Results show that the classic general word embedding GloVe Common Crawl performed better in the DrugBank corpus, despite having less word coverage and a lower internal semantic relationship than the classic specific word embedding, Pyysalo PM + PMC; while in the contextualized word embeddings the best results are presented in the specific ones. We conclude, therefore, when using classic word embeddings as features on the BioNER task, the general ones could be considered a good option. On the other hand, when using contextualized word embeddings, the specific ones are the best option.

Project description:BACKGROUND: Concept recognition is an essential task in biomedical information extraction, presenting several complex and unsolved challenges. The development of such solutions is typically performed in an ad-hoc manner or using general information extraction frameworks, which are not optimized for the biomedical domain and normally require the integration of complex external libraries and/or the development of custom tools. RESULTS: This article presents Neji, an open source framework optimized for biomedical concept recognition built around four key characteristics: modularity, scalability, speed, and usability. It integrates modules for biomedical natural language processing, such as sentence splitting, tokenization, lemmatization, part-of-speech tagging, chunking and dependency parsing. Concept recognition is provided through dictionary matching and machine learning with normalization methods. Neji also integrates an innovative concept tree implementation, supporting overlapped concept names and respective disambiguation techniques. The most popular input and output formats, namely Pubmed XML, IeXML, CoNLL and A1, are also supported. On top of the built-in functionalities, developers and researchers can implement new processing modules or pipelines, or use the provided command-line interface tool to build their own solutions, applying the most appropriate techniques to identify heterogeneous biomedical concepts. Neji was evaluated against three gold standard corpora with heterogeneous biomedical concepts (CRAFT, AnEM and NCBI disease corpus), achieving high performance results on named entity recognition (F1-measure for overlap matching: species 95%, cell 92%, cellular components 83%, gene and proteins 76%, chemicals 65%, biological processes and molecular functions 63%, disorders 85%, and anatomical entities 82%) and on entity normalization (F1-measure for overlap name matching and correct identifier included in the returned list of identifiers: species 88%, cell 71%, cellular components 72%, gene and proteins 64%, chemicals 53%, and biological processes and molecular functions 40%). Neji provides fast and multi-threaded data processing, annotating up to 1200 sentences/second when using dictionary-based concept identification. CONCLUSIONS: Considering the provided features and underlying characteristics, we believe that Neji is an important contribution to the biomedical community, streamlining the development of complex concept recognition solutions. Neji is freely available at http://bioinformatics.ua.pt/neji.

Project description:Motivation:Recognition of biomedical entities from scientific text is a critical component of natural language processing and automated information extraction platforms. Modern named entity recognition approaches rely heavily on supervised machine learning techniques, which are critically dependent on annotated training corpora. These approaches have been shown to perform well when trained and tested on the same source. However, in such scenario, the performance and evaluation of these models may be optimistic, as such models may not necessarily generalize to independent corpora, resulting in potential non-optimal entity recognition for large-scale tagging of widely diverse articles in databases such as PubMed. Results:Here we aggregated published corpora for the recognition of biomolecular entities (such as genes, RNA, proteins, variants, drugs and metabolites), identified entity class overlap and performed leave-corpus-out cross validation strategy to test the efficiency of existing models. We demonstrate that accuracies of models trained on individual corpora decrease substantially for recognition of the same biomolecular entity classes in independent corpora. This behavior is possibly due to limited generalizability of entity-class-related features captured by individual corpora (model 'overtraining') which we investigated further at the orthographic level, as well as potential annotation standard differences. We show that the combined use of multi-source training corpora results in overall more generalizable models for named entity recognition, while achieving comparable individual performance. By performing learning-curve-based power analysis we further identified that performance is often not limited by the quantity of the annotated data. Availability and implementation:Compiled primary and secondary sources of the aggregated corpora are available on: https://github.com/dterg/biomedical_corpora/wiki and https://bitbucket.org/iAnalytica/bioner. Supplementary information:Supplementary data are available at Bioinformatics online.

Dataset Information

Gene ontology concept recognition using named concept: understanding the various presentations of the gene functions in biomedical literature.

Publications

Gene ontology concept recognition using named concept: understanding the various presentations of the gene functions in biomedical literature.

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