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Retro: concept-based clustering of biomedical topical sets.

ABSTRACT: MOTIVATION:Clustering methods can be useful for automatically grouping documents into meaningful clusters, improving human comprehension of a document collection. Although there are clustering algorithms that can achieve the goal for relatively large document collections, they do not always work well for small and homogenous datasets. METHODS:In this article, we present Retro-a novel clustering algorithm that extracts meaningful clusters along with concise and descriptive titles from small and homogenous document collections. Unlike common clustering approaches, our algorithm predicts cluster titles before clustering. It relies on the hypergeometric distribution model to discover key phrases, and generates candidate clusters by assigning documents to these phrases. Further, the statistical significance of candidate clusters is tested using supervised learning methods, and a multiple testing correction technique is used to control the overall quality of clustering. RESULTS:We test our system on five disease datasets from OMIM(®) and evaluate the results based on MeSH(®) term assignments. We further compare our method with several baseline and state-of-the-art methods, including K-means, expectation maximization, latent Dirichlet allocation-based clustering, Lingo, OPTIMSRC and adapted GK-means. The experimental results on the 20-Newsgroup and ODP-239 collections demonstrate that our method is successful at extracting significant clusters and is superior to existing methods in terms of quality of clusters. Finally, we apply our system to a collection of 6248 topical sets from the HomoloGene(®) database, a resource in PubMed(®). Empirical evaluation confirms the method is useful for small homogenous datasets in producing meaningful clusters with descriptive titles. AVAILABILITY AND IMPLEMENTATION:A web-based demonstration of the algorithm applied to a collection of sets from the HomoloGene database is available at http://www.ncbi.nlm.nih.gov/CBBresearch/Wilbur/IRET/CLUSTERING_HOMOLOGENE/index.html. CONTACT:lana.yeganova@nih.gov SUPPLEMENTARY INFORMATION:Supplementary data are available at Bioinformatics online.

SUBMITTER: Yeganova L

PROVIDER: S-EPMC4221121 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature

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Project description:A massive number of biological entities, such as genes and mutations, are mentioned in the biomedical literature. The capturing of the semantic relatedness of biological entities is vital to many biological applications, such as protein-protein interaction prediction and literature-based discovery. Concept embeddings-which involve the learning of vector representations of concepts using machine learning models-have been employed to capture the semantics of concepts. To develop concept embeddings, named-entity recognition (NER) tools are first used to identify and normalize concepts from the literature, and then different machine learning models are used to train the embeddings. Despite multiple attempts, existing biomedical concept embeddings generally suffer from suboptimal NER tools, small-scale evaluation, and limited availability. In response, we employed high-performance machine learning-based NER tools for concept recognition and trained our concept embeddings, BioConceptVec, via four different machine learning models on ~30 million PubMed abstracts. BioConceptVec covers over 400,000 biomedical concepts mentioned in the literature and is of the largest among the publicly available biomedical concept embeddings to date. To evaluate the validity and utility of BioConceptVec, we respectively performed two intrinsic evaluations (identifying related concepts based on drug-gene and gene-gene interactions) and two extrinsic evaluations (protein-protein interaction prediction and drug-drug interaction extraction), collectively using over 25 million instances from nine independent datasets (17 million instances from six intrinsic evaluation tasks and 8 million instances from three extrinsic evaluation tasks), which is, by far, the most comprehensive to our best knowledge. The intrinsic evaluation results demonstrate that BioConceptVec consistently has, by a large margin, better performance than existing concept embeddings in identifying similar and related concepts. More importantly, the extrinsic evaluation results demonstrate that using BioConceptVec with advanced deep learning models can significantly improve performance in downstream bioinformatics studies and biomedical text-mining applications. Our BioConceptVec embeddings and benchmarking datasets are publicly available at https://github.com/ncbi-nlp/BioConceptVec.

Project description:BackgroundAs biomedical knowledge is rapidly evolving, concept enrichment of biomedical terminologies is an active research area involving automatic identification of missing or new concepts. Previously, we prototyped a lexical-based formal concept analysis (FCA) approach in which concepts were derived by intersecting bags of words, to identify potentially missing concepts in the National Cancer Institute (NCI) Thesaurus. However, this prototype did not handle concept naming and positioning. In this paper, we introduce a sequenced-based FCA approach to identify potentially missing concepts, supporting concept naming and positioning.MethodsWe consider the concept name sequences as FCA attributes to construct the formal context. The concept-forming process is performed by computing the longest common substrings of concept name sequences. After new concepts are formalized, we further predict their potential positions in the original hierarchy by identifying their supertypes and subtypes from original concepts. Automated validation via external terminologies in the Unified Medical Language System (UMLS) and biomedical literature in PubMed is performed to evaluate the effectiveness of our approach.ResultsWe applied our sequenced-based FCA approach to all the sub-hierarchies under Disease or Disorder in the NCI Thesaurus (19.08d version) and five sub-hierarchies under Clinical Finding and Procedure in the SNOMED CT (US Edition, March 2020 release). In total, 1397 potentially missing concepts were identified in the NCI Thesaurus and 7223 in the SNOMED CT. For NCI Thesaurus, 85 potentially missing concepts were found in external terminologies and 315 of the remaining 1312 appeared in biomedical literature. For SNOMED CT, 576 were found in external terminologies and 1159 out of the remaining 6647 were found in biomedical literature.ConclusionOur sequence-based FCA approach has shown the promise for identifying potentially missing concepts in biomedical terminologies.

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.

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Retro: concept-based clustering of biomedical topical sets.

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