Profiling Medical Journal Articles Using a Gene Ontology Semantic Tagger

In many areas of academic publishing, there is an explosion of literature, and sub-division of fields into subfields, leading to stove-piping where sub-communities of expertise become disconnected from each other. This is especially true in the genetics literature over the last 10 years where researchers are no longer able to maintain knowledge of previously related areas. This paper extends several approaches based on natural language processing and corpus linguistics which allow us to examine corpora derived from bodies of genetics literature and will help to make comparisons and improve retrieval methods using domain knowledge via an existing gene ontology. We derived two open access medical journal corpora from PubMed related to psychiatric genetics and immune disorder genetics. We created a novel Gene Ontology Semantic Tagger (GOST) and lexicon to annotate the corpora and are then able to compare subsets of literature to understand the relative distributions of genetic terminology, thereby enabling researchers to make improved connections between them

Infrastructure for Semantic Annotation in the Genomics Domain

We describe a novel super-infrastructure for biomedical text mining which incorporates an end-to-end pipeline for the collection, annotation, storage, retrieval and analysis of biomedical and life sciences literature, combining NLP and corpus linguistics methods. The infrastructure permits extreme-scale research on the open access PubMed Central archive. It combines an updatable Gene Ontology Semantic Tagger (GOST) for entity identification and semantic markup in the literature, with a NLP pipeline scheduler (Buster) to collect and process the corpus, and a bespoke columnar corpus database (LexiDB) for indexing. The corpus database is distributed to permit fast indexing, and provides a simple web front-end with corpus linguistics methods for sub-corpus comparison and retrieval. GOST is also connected as a service in the Language Application (LAPPS) Grid, in which context it is interoperable with other NLP tools and data in the Grid and can be combined with them in more complex workflows. In a literature based discovery setting, we have created an annotated corpus of 9,776 papers with 5,481,543 words

Application of Biomedical Text Mining

With the enormous volume of biological literature, increasing growth phenomenon due to the high rate of new publications is one of the most common motivations for the biomedical text mining. Aiming at this massive literature to process, it could extract more biological information for mining biomedical knowledge. Using the information will help understand the mechanism of disease generation, promote the development of disease diagnosis technology, and promote the development of new drugs in the field of biomedical research. Based on the background, this chapter introduces the rise of biomedical text mining. Then, it describes the biomedical text-mining technology, namely natural language processing, including the several components. This chapter emphasizes the two aspects in biomedical text mining involving static biomedical information recognization and dynamic biomedical information extraction using instance analysis from our previous works. The aim is to provide a way to quickly understand biomedical text mining for some researchers

Foreword

The aim of this Workshop is to focus on building and evaluating resources used to facilitate biomedical text mining, including their design, update, delivery, quality assessment, evaluation and dissemination. Key resources of interest are lexical and knowledge repositories (controlled vocabularies, terminologies, thesauri, ontologies) and annotated corpora, including both task-specific resources and repositories reengineered from biomedical or general language resources. Of particular interest is the process of building annotated resources, including designing guidelines and annotation schemas (aiming at both syntactic and semantic interoperability) and relying on language engineering standards. Challenging aspects are updates and evolution management of resources, as well as their documentation, dissemination and evaluation

Benchmarking Ontologies: Bigger or Better?

A scientific ontology is a formal representation of knowledge within a domain, typically including central concepts, their properties, and relations. With the rise of computers and high-throughput data collection, ontologies have become essential to data mining and sharing across communities in the biomedical sciences. Powerful approaches exist for testing the internal consistency of an ontology, but not for assessing the fidelity of its domain representation. We introduce a family of metrics that describe the breadth and depth with which an ontology represents its knowledge domain. We then test these metrics using (1) four of the most common medical ontologies with respect to a corpus of medical documents and (2) seven of the most popular English thesauri with respect to three corpora that sample language from medicine, news, and novels. Here we show that our approach captures the quality of ontological representation and guides efforts to narrow the breach between ontology and collective discourse within a domain. Our results also demonstrate key features of medical ontologies, English thesauri, and discourse from different domains. Medical ontologies have a small intersection, as do English thesauri. Moreover, dialects characteristic of distinct domains vary strikingly as many of the same words are used quite differently in medicine, news, and novels. As ontologies are intended to mirror the state of knowledge, our methods to tighten the fit between ontology and domain will increase their relevance for new areas of biomedical science and improve the accuracy and power of inferences computed across them

Using Noun Phrases for Navigating Biomedical Literature on Pubmed: How Many Updates Are We Losing Track of?

Author-supplied citations are a fraction of the related literature for a paper. The “related citations” on PubMed is typically dozens or hundreds of results long, and does not offer hints why these results are related. Using noun phrases derived from the sentences of the paper, we show it is possible to more transparently navigate to PubMed updates through search terms that can associate a paper with its citations. The algorithm to generate these search terms involved automatically extracting noun phrases from the paper using natural language processing tools, and ranking them by the number of occurrences in the paper compared to the number of occurrences on the web. We define search queries having at least one instance of overlap between the author-supplied citations of the paper and the top 20 search results as citation validated (CV). When the overlapping citations were written by same authors as the paper itself, we define it as CV-S and different authors is defined as CV-D. For a systematic sample of 883 papers on PubMed Central, at least one of the search terms for 86% of the papers is CV-D versus 65% for the top 20 PubMed “related citations.” We hypothesize these quantities computed for the 20 million papers on PubMed to differ within 5% of these percentages. Averaged across all 883 papers, 5 search terms are CV-D, and 10 search terms are CV-S, and 6 unique citations validate these searches. Potentially related literature uncovered by citation-validated searches (either CV-S or CV-D) are on the order of ten per paper – many more if the remaining searches that are not citation-validated are taken into account. The significance and relationship of each search result to the paper can only be vetted and explained by a researcher with knowledge of or interest in that paper

Semantic Similarity in Cheminformatics

Similarity in chemistry has been applied to a variety of problems: to predict biochemical properties of molecules, to disambiguate chemical compound references in natural language, to understand the evolution of metabolic pathways, to predict drug-drug interactions, to predict therapeutic substitution of antibiotics, to estimate whether a compound is harmful, etc. While measures of similarity have been created that make use of the structural properties of the molecules, some ontologies (the Chemical Entities of Biological Interest (ChEBI) being one of the most relevant) capture chemistry knowledge in machine-readable formats and can be used to improve our notions of molecular similarity. Ontologies in the biomedical domain have been extensively used to compare entities of biological interest, a technique known as ontology-based semantic similarity. This has been applied to various biologically relevant entities, such as genes, proteins, diseases, and anatomical structures, as well as in the chemical domain. This chapter introduces the fundamental concepts of ontology-based semantic similarity, its application in cheminformatics, its relevance in previous studies, and future potential. It also discusses the existing challenges in this area, tracing a parallel with other domains, particularly genomics, where this technique has been used more often and for longer

Benchmarking Ontologies: Bigger or Better?

A scientific ontology is a formal representation of knowledge within a domain, typically including central concepts, their properties, and relations. With the rise of computers and high-throughput data collection, ontologies have become essential to data mining and sharing across communities in the biomedical sciences. Powerful approaches exist for testing the internal consistency of an ontology, but not for assessing the fidelity of its domain representation. We introduce a family of metrics that describe the breadth and depth with which an ontology represents its knowledge domain. We then test these metrics using (1) four of the most common medical ontologies with respect to a corpus of medical documents and (2) seven of the most popular English thesauri with respect to three corpora that sample language from medicine, news, and novels. Here we show that our approach captures the quality of ontological representation and guides efforts to narrow the breach between ontology and collective discourse within a domain. Our results also demonstrate key features of medical ontologies, English thesauri, and discourse from different domains. Medical ontologies have a small intersection, as do English thesauri. Moreover, dialects characteristic of distinct domains vary strikingly as many of the same words are used quite differently in medicine, news, and novels. As ontologies are intended to mirror the state of knowledge, our methods to tighten the fit between ontology and domain will increase their relevance for new areas of biomedical science and improve the accuracy and power of inferences computed across them.</p