Dataset Information

Discovery of novel biomarkers and phenotypes by semantic technologies.

ABSTRACT: BACKGROUND: Biomarkers and target-specific phenotypes are important to targeted drug design and individualized medicine, thus constituting an important aspect of modern pharmaceutical research and development. More and more, the discovery of relevant biomarkers is aided by in silico techniques based on applying data mining and computational chemistry on large molecular databases. However, there is an even larger source of valuable information available that can potentially be tapped for such discoveries: repositories constituted by research documents. RESULTS: This paper reports on a pilot experiment to discover potential novel biomarkers and phenotypes for diabetes and obesity by self-organized text mining of about 120,000 PubMed abstracts, public clinical trial summaries, and internal Merck research documents. These documents were directly analyzed by the InfoCodex semantic engine, without prior human manipulations such as parsing. Recall and precision against established, but different benchmarks lie in ranges up to 30% and 50% respectively. Retrieval of known entities missed by other traditional approaches could be demonstrated. Finally, the InfoCodex semantic engine was shown to discover new diabetes and obesity biomarkers and phenotypes. Amongst these were many interesting candidates with a high potential, although noticeable noise (uninteresting or obvious terms) was generated. CONCLUSIONS: The reported approach of employing autonomous self-organising semantic engines to aid biomarker discovery, supplemented by appropriate manual curation processes, shows promise and has potential to impact, conservatively, a faster alternative to vocabulary processes dependent on humans having to read and analyze all the texts. More optimistically, it could impact pharmaceutical research, for example to shorten time-to-market of novel drugs, or speed up early recognition of dead ends and adverse reactions.

SUBMITTER: Trugenberger CA

PROVIDER: S-EPMC3605201 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Discovery of novel biomarkers and phenotypes by semantic technologies.

Trugenberger Carlo A CA Wälti Christoph C Peregrim David D Sharp Mark E ME Bureeva Svetlana S

BMC bioinformatics 20130213

<h4>Background</h4>Biomarkers and target-specific phenotypes are important to targeted drug design and individualized medicine, thus constituting an important aspect of modern pharmaceutical research and development. More and more, the discovery of relevant biomarkers is aided by in silico techniques based on applying data mining and computational chemistry on large molecular databases. However, there is an even larger source of valuable information available that can potentially be tapped for s ...[more]

PMID: 23402646

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Project description:Biomedical semantic indexing is a very useful support tool for human curators in their efforts for indexing and cataloging the biomedical literature.The aim of this study was to describe a system to automatically assign Medical Subject Headings (MeSH) to biomedical articles from MEDLINE.Our approach relies on the assumption that similar documents should be classified by similar MeSH terms. Although previous work has already exploited the document similarity by using a k-nearest neighbors algorithm, we represent documents as document vectors by search engine indexing and then compute the similarity between documents using cosine similarity. Once the most similar documents for a given input document are retrieved, we rank their MeSH terms to choose the most suitable set for the input document. To do this, we define a scoring function that takes into account the frequency of the term into the set of retrieved documents and the similarity between the input document and each retrieved document. In addition, we implement guidelines proposed by human curators to annotate MEDLINE articles; in particular, the heuristic that says if 3 MeSH terms are proposed to classify an article and they share the same ancestor, they should be replaced by this ancestor. The representation of the MeSH thesaurus as a graph database allows us to employ graph search algorithms to quickly and easily capture hierarchical relationships such as the lowest common ancestor between terms.Our experiments show promising results with an F1 of 69% on the test dataset.To the best of our knowledge, this is the first work that combines search and graph database technologies for the task of biomedical semantic indexing. Due to its horizontal scalability, ElasticSearch becomes a real solution to index large collections of documents (such as the bibliographic database MEDLINE). Moreover, the use of graph search algorithms for accessing MeSH information could provide a support tool for cataloging MEDLINE abstracts in real time.

Dataset Information

Discovery of novel biomarkers and phenotypes by semantic technologies.

Publications

Discovery of novel biomarkers and phenotypes by semantic technologies.

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