Search

BackgroundAntimicrobial resistance has reached globally alarming levels and is becoming a major public health threat. Lack of efficacious antimicrobial resistance surveillance systems was identified as one of the causes of increasing resistance, due to the lag time between new resistances and alerts to care providers. Several initiatives to track drug resistance evolution have been developed. However, no effective real-time and source-independent antimicrobial resistance monitoring system is available publicly. ObjectiveTo design and implement an architecture that can provide real-time and source-independent antimicrobial resistance monitoring to support transnational resistance surveillance. In particular, we investigated the use of a Semantic Web-based model to foster integration and interoperability of interinstitutional and cross-border microbiology laboratory databases. MethodsFollowing the agile software development methodology, we derived the main requirements needed for effective antimicrobial resistance monitoring, from which we proposed a decentralized monitoring architecture based on the Semantic Web stack. The architecture uses an ontology-driven approach to promote the integration of a network of sentinel hospitals or laboratories. Local databases are wrapped into semantic data repositories that automatically expose local computing-formalized laboratory information in the Web. A central source mediator, based on local reasoning, coordinates the access to the semantic end points. On the user side, a user-friendly Web interface provides access and graphical visualization to the integrated views. ResultsWe designed and implemented the online Antimicrobial Resistance Trend Monitoring System (ARTEMIS) in a pilot network of seven European health care institutions sharing 70+ million triples of information about drug resistance and consumption. Evaluation of the computing performance of the mediator demonstrated that, on average, query response time was a few seconds (mean 4.3, SD 0.1×102 seconds). Clinical pertinence assessment showed that resistance trends automatically calculated by ARTEMIS had a strong positive correlation with the European Antimicrobial Resistance Surveillance Network (EARS-Net) (ρ = .86, P < .001) and the Sentinel Surveillance of Antibiotic Resistance in Switzerland (SEARCH) (ρ = .84, P < .001) systems. Furthermore, mean resistance rates extracted by ARTEMIS were not significantly different from those of either EARS-Net (∆ = ±0.130; 95% confidence interval –0 to 0.030; P < .001) or SEARCH (∆ = ±0.042; 95% confidence interval –0.004 to 0.028; P = .004). ConclusionsWe introduce a distributed monitoring architecture that can be used to build transnational antimicrobial resistance surveillance networks. Results indicated that the Semantic Web-based approach provided an efficient and reliable solution for development of eHealth architectures that enable online antimicrobial resistance monitoring from heterogeneous data sources. In future, we expect that more health care institutions can join the ARTEMIS network so that it can provide a large European and wider biosurveillance network that can be used to detect emerging bacterial resistance in a multinational context and support public health actions.

Assessing the pathogenicity of genetic variants is a critical aspect of genomic medicine and precision healthcare. Over the last decades, the identification of genetic variants and their characterization has become simpler (advent of highthroughput sequencing technologies, analysis, and visualization support tools, etc.). However, the quality of assessments to distinguish benign from pathogenic variants is critical to inform clinical decision-making and improve patient outcomes. In this article, we investigate the relationships using correlation tests between the characterization of genetic variants in the literature and their pathogenicity scores computed by two state-of-the-art assessment tools (SIFT and PolyPhen-2). [ABSTRACT FROM AUTHOR]

The curation of genomic variants requires collecting evidence not only in variant knowledge bases but also in the literature. However, some variants result in no match when searched in the scientific literature. Indeed, it has been reported that a significant subset of information related to genomic variants are not reported in the full text, but only in the supplementary materials associated with a publication. In the study, we present an evaluation of the use of supplementary data (SD) to improve the retrieval of relevant scientific publications for variant curation. Our experiments show that searching SD enables to significantly increase the volume of documents retrieved for a variant, thus reducing by ∼63% the number of variants for which no match is found in the scientific literature. SD thus represent a paramount source of information for curating variants of unknown significance and should receive more attention by global research infrastructures, which maintain literature search engines. Database URLhttps://www.expasy.org/resources/variomes [ABSTRACT FROM AUTHOR]

Abstract Background This paper describes and evaluates a sentence selection engine that extracts a GeneRiF (Gene Reference into Functions) as defined in ENTREZ-Gene based on a MEDLINE record. Inputs for this task include both a gene and a pointer to a MEDLINE reference. In the suggested approach we merge two independent sentence extraction strategies. The first proposed strategy (LASt) uses argumentative features, inspired by discourse-analysis models. The second extraction scheme (GOEx) uses an automatic text categorizer to estimate the density of Gene Ontology categories in every sentence; thus providing a full ranking of all possible candidate GeneRiFs. A combination of the two approaches is proposed, which also aims at reducing the size of the selected segment by filtering out non-content bearing rhetorical phrases. Results Based on the TREC-2003 Genomics collection for GeneRiF identification, the LASt extraction strategy is already competitive (52.78%). When used in a combined approach, the extraction task clearly shows improvement, achieving a Dice score of over 57% (+10%). Conclusions Argumentative representation levels and conceptual density estimation using Gene Ontology contents appear complementary for functional annotation in proteomics.

Motivation Identification and interpretation of clinically actionable variants is a critical bottleneck. Searching for evidence in the literature is mandatory according to ASCO/AMP/CAP practice guidelines; however, it is both labor-intensive and error-prone. We developed a system to perform triage of publications relevant to support an evidence-based decision. The system is also able to prioritize variants. Our system searches within pre-annotated collections such as MEDLINE and PubMed Central. Results We assess the search effectiveness of the system using three different experimental settings: literature triage; variant prioritization and comparison of Variomes with LitVar. Almost two-thirds of the publications returned in the top-5 are relevant for clinical decision-support. Our approach enabled identifying 81.8% of clinically actionable variants in the top-3. Variomes retrieves on average +21.3% more articles than LitVar and returns the same number of results or more results than LitVar for 90% of the queries when tested on a set of 803 queries; thus, establishing a new baseline for searching the literature about variants. Availability and implementation Variomes is publicly available at https://candy.hesge.ch/Variomes. Source code is freely available at https://github.com/variomes/sibtm-variomes. SynVar is publicly available at https://goldorak.hesge.ch/synvar. Supplementary information Supplementary data are available at Bioinformatics online. [ABSTRACT FROM AUTHOR]

The encoding of Electronic Medical Records is a complex and time-consuming task. We report on a machine learning model for proposing diagnoses and procedures codes, from a large realistic dataset of 245 000 electronic medical records at the University Hospitals of Geneva. Our study particularly focuses on the impact of training data quantity on the model’s performances. We show that the performances of the models do not increase while encoded instances from previous years are exploited for learning data. Furthermore, supervised models are shown to be highly perishable: we show a potential drop in performances of around -10% per year. Consequently, great and constant care must be exercised for designing and updating the content of such knowledge bases exploited by machine learning. [ABSTRACT FROM AUTHOR]

In the UniProt Knowledgebase (UniProtKB), publications providing evidence for a specific protein annotation entry are organized across different categories, such as function, interaction and expression, based on the type of data they contain. To provide a systematic way of categorizing computationally mapped bibliographies in UniProt, we investigate a convolutional neural network (CNN) model to classify publications with accession annotations according to UniProtKB categories. The main challenge of categorizing publications at the accession annotation level is that the same publication can be annotated with multiple proteins and thus be associated with different category sets according to the evidence provided for the protein. We propose a model that divides the document into parts containing and not containing evidence for the protein annotation. Then, we use these parts to create different feature sets for each accession and feed them to separate layers of the network. The CNN model achieved a micro F1-score of 0.72 and a macro F1-score of 0.62, outperforming baseline models based on logistic regression and support vector machine by up to 22 and 18 percentage points, respectively. We believe that such an approach could be used to systematically categorize the computationally mapped bibliography in UniProtKB, which represents a significant set of the publications, and help curators to decide whether a publication is relevant for further curation for a protein accession. Database URL: https://goldorak.hesge.ch/bioexpclass/upclass/. [ABSTRACT FROM AUTHOR]

The text-mining services for kinome curation track, part of BioCreative VI, proposed a competition to assess the effectiveness of text mining to perform literature triage. The track has exploited an unpublished curated data set from the neXtProt database. This data set contained comprehensive annotations for 300 human protein kinases. For a given protein and a given curation axis [diseases or gene ontology (GO) biological processes], participants' systems had to identify and rank relevant articles in a collection of 5.2 M MEDLINE citations (task 1) or 530 000 full-text articles (task 2). Explored strategies comprised named-entity recognition and machine-learning frameworks. For that latter approach, participants developed methods to derive a set of negative instances, as the databases typically do not store articles that were judged as irrelevant by curators. The supervised approaches proposed by the participating groups achieved significant improvements compared to the baseline established in a previous study and compared to a basic PubMed search. [ABSTRACT FROM AUTHOR]

The development of efficient text-mining tools promises to boost the curation workflow by significantly reducing the time needed to process the literature into biological databases. We have developed a curation support tool, neXtA5, that provides a search engine coupled with an annotation system directly integrated into a biocuration workflow. neXtA5 assists curation with modules optimized for the thevarious curation tasks: document triage, entity recognition and information extraction. Here, we describe the evaluation of neXtA5 by expert curators. We first assessed the annotations of two independent curators to provide a baseline for comparison. To evaluate the performance of neXtA5, we submitted requests and compared the neXtA5 results with the manual curation. The analysis focuses on the usability of neXtA5 to support the curation of two types of data: biological processes (BPs) and diseases (Ds). We evaluated the relevance of the papers proposed as well as the recall and precision of the suggested annotations. The evaluation of document triage by neXtA5 precision showed that both curators agree with neXtA5 for 67 (BP) and 63% (D) of abstracts, while curators agree on accepting or rejecting an abstract ~80% of the time. Hence, the precision of the triage system is satisfactory. For concept extraction, curators approved 35 (BP) and 25% (D) of the neXtA5 annotations. Conversely, neXtA5 successfully annotated up to 36 (BP) and 68% (D) of the terms identified by curators. The user feedback obtained in these tests highlighted the need for improvement in the ranking function of neXtA5 annotations. Therefore, we transformed the information extraction component into an annotation ranking system. This improvement results in a top precision (precision at first rank) of 59 (D) and 63% (BP). These results suggest that when considering only the first extracted entity, the current system achieves a precision comparable with expert biocurators. [ABSTRACT FROM AUTHOR]

Identifying similar patients might greatly facilitate the treatment of a given patient, enabling to observe the response and outcome to a particular treatment. Case-based retrieval services dealing with natural language processing are of major importance to deal with the significant amount of unstructured clinical data. In this paper, we present the development and evaluation of a case-based retrieval (CBR) service tested on a collection of Italian pediatric cardiology cases. Cases are indexed and a search engine is proposed. Search functionalities, such as interactive MeSH normalization and relevance feedback, are proposed. While the qualitative evaluation aims to provide feedback and recommendations, the quantitative evaluation enables to estimate the precision of the system. In more than half of the cases and for up to two thirds of them, the system is able to suggest a similar episode of care at first rank. With an improvement of the feedback relevance strategy, we can expect an improvement of the precision. The CBR can be expanded to multilingual EHR and other fields. [ABSTRACT FROM AUTHOR]

Today, molecular biology databases are the cornerstone of knowledge sharing for life and health sciences. The curation and maintenance of these resources are labour intensive. Although text mining is gaining impetus among curators, its integration in curation workflow has not yet been widely adopted. The Swiss Institute of Bioinformatics Text Mining and CALIPHO groups joined forces to design a new curation support system named nextA5. In this report, we explore the integration of novel triage services to support the curation of two types of biological data: protein–protein interactions (PPIs) and posttranslational modifications (PTMs). The recognition of PPIs and PTMs poses a special challenge, as it not only requires the identification of biological entities (proteins or residues), but also that of particular relationships (e.g. binding or position). These relationships cannot be described with onto-terminological descriptors such as the Gene Ontology for molecular functions, which makes the triage task more challenging. Prioritizing papers for these tasks thus requires the development of different approaches. In this report, we propose a new method to prioritize articles containing information specific to PPIs and PTMs. The new resources (RESTful APIs, semantically annotated MEDLINE library) enrich the neXtA5 platform. We tuned the article prioritizationmodel on a set of 100 proteins previously annotated by the CALIPHO group. The effectiveness of the triage service was tested with a dataset of 200 annotated proteins. We defined two sets of descriptors to support automatic triage: the first set to enrich for papers with PPI data, and the second for PTMs. All occurrences of these descriptors were marked-up in MEDLINE and indexed, thus constituting a semantically annotated version of MEDLINE. These annotations were then used to estimate the relevance of a particular article with respect to the chosen annotation type. This relevance score was combined with a local vector-space search engine to generate a ranked list of PMIDs. We also evaluated a query refinement strategy, which adds specific keywords (such as ‘binds’ or ‘interacts’) to the original query. Compared to PubMed, the search effectiveness of the nextA5 triage service is improved by 190% for the prioritization of papers with PPIs information and by 260% for papers with PTMs information. Combining advanced retrieval and query refinement strategies with automatically enriched MEDLINE contents is effective to improve triage in complex curation tasks such as the curation of protein PPIs and PTMs. [ABSTRACT FROM AUTHOR]

Availability of research datasets is keystone for health and life science study reproducibility and scientific progress. Due to the heterogeneity and complexity of these data, a main challenge to be overcome by research data management systems is to provide users with the best answers for their search queries. In the context of the 2016 bioCADDIE Dataset Retrieval Challenge, we investigate a novel ranking pipeline to improve the search of datasets used in biomedical experiments. Our system comprises a query expansion model based on word embeddings, a similarity measure algorithm that takes into consideration the relevance of the query terms, and a dataset categorization method that boosts the rank of datasets matching query constraints. The system was evaluated using a corpus with 800k datasets and 21 annotated user queries, and provided competitive results when compared to the other challenge participants. In the official run, it achieved the highest infAP, beingþ22.3% higher than the median infAP of the participant’s best submissions. Overall, it is ranked at top 2 if an aggregated metric using the best official measures per participant is considered. The query expansion method showed positive impact on the system’s performance increasing our baseline up toþ5.0% andþ3.4% for the infAP and infNDCG metrics, respectively. The similarity measure algorithm showed robust performance in different training conditions, with small performance variations compared to the Divergence from Randomness framework. Finally, the result categorization did not have significant impact on the system’s performance. We believe that our solution could be used to enhance biomedical dataset management systems. The use of data driven expansion methods, such as those based on word embeddings, could be an alternative to the complexity of biomedical terminologies. Nevertheless, due to the limited size of the assessment set, further experiments need to be performed to draw conclusive results. [ABSTRACT FROM AUTHOR]

The rapid increase in the number of published articles poses a challenge for curated databases to remain up-to-date. To help the scientific community and database curators deal with this issue, we have developed an application, neXtA5, which prioritizes the literature for specific curation requirements. Our system, neXtA5, is a curation service composed of three main elements. The first component is a named-entity recognition module, which annotates MEDLINE over some predefined axes. This report focuses on three axes: Diseases, the Molecular Function and Biological Process sub-ontologies of the Gene Ontology (GO). The automatic annotations are then stored in a local database, BioMed, for each annotation axis. Additional entities such as species and chemical compounds are also identified. The second component is an existing search engine, which retrieves the most relevant MEDLINE records for any given query. The third component uses the content of BioMed to generate an axis-specific ranking, which takes into account the density of named-entities as stored in the Biomed database. The two ranked lists are ultimately merged using a linear combination, which has been specifically tuned to support the annotation of each axis. The fine-tuning of the coefficients is formally reported for each axis-driven search. Compared with PubMed, which is the system used by most curators, the improvement is the following:þ231% for Diseases,þ236% for Molecular Functions andþ3153% for Biological Process when measuring the precision of the topreturned PMID (P0 or mean reciprocal rank). The current search methods significantly improve the search effectiveness of curators for three important curation axes. Further experiments are being performed to extend the curation types, in particular protein-protein interactions, which require specific relationship extraction capabilities. In parallel, userfriendly interfaces powered with a set of JSON web services are currently being implemented into the neXtProt annotation pipeline. [ABSTRACT FROM AUTHOR]

Biomedical professionals have access to a huge amount of literature, but when they use a search engine, they often have to deal with too many documents to efficiently find the appropriate information in a reasonable time. In this perspective, question-answering (QA) engines are designed to display answers, which were automatically extracted from the retrieved documents. Standard QA engines in literature process a user question, then retrieve relevant documents and finally extract some possible answers out of these documents using various named-entity recognition processes. In our study, we try to answer complex genomics questions, which can be adequately answered only using Gene Ontology (GO) concepts. Such complex answers cannot be found using state-of-the-art dictionary- and redundancy-based QA engines. We compare the effectiveness of two dictionary-based classifiers for extracting correct GO answers from a large set of 100 retrieved abstracts per question. In the same way, we also investigate the power of GOCat, a GO supervised classifier. GOCat exploits the GOA database to propose GO concepts that were annotated by curators for similar abstracts. This approach is called deep QA, as it adds an original classification step, and exploits curated biological data to infer answers, which are not explicitly mentioned in the retrieved documents. We show that for complex answers such as protein functional descriptions, the redundancy phenomenon has a limited effect. Similarly usual dictionary-based approaches are relatively ineffective. In contrast, we demonstrate how existing curated data, beyond information extraction, can be exploited by a supervised classifier, such as GOCat, to massively improve both the quantity and the quality of the answers with a +100% improvement for both recall and precision. [ABSTRACT FROM AUTHOR]

We present an electronic capture tool to process informed consents, which are mandatory recorded when running a clinical trial. This tool aims at the extraction of information expressing the duration of the consent given by the patient to authorize the exploitation of biomarker-related information collected during clinical trials. The system integrates a language detection module (LDM) to route a document into the appropriate information extraction module (IEM). The IEM is based on language-specific sets of linguistic rules for the identification of relevant textual facts. The achieved accuracy of both the LDM and IEM is 99%. The architecture of the system is described in detail. [ABSTRACT FROM AUTHOR]

Background: The large increase in the size of patent collections has led to the need of efficient search strategies. But the development of advanced text-mining applications dedicated to patents of the biomedical field remains rare, in particular to address the needs of the pharmaceutical & biotech industry, which intensively uses patent libraries for competitive intelligence and drug development. Methods: We describe here the development of an advanced retrieval engine to search information in patent collections in the field of medicinal chemistry. We investigate and combine different strategies and evaluate their respective impact on the performance of the search engine applied to various search tasks, which covers the putatively most frequent search behaviours of intellectual property officers in medical chemistry: 1) a prior art search task; 2) a technical survey task; and 3) a variant of the technical survey task, sometimes called known-item search task, where a single patent is targeted. Results: The optimal tuning of our engine resulted in a top-precision of 6.76% for the prior art search task, 23.28% for the technical survey task and 46.02% for the variant of the technical survey task. We observed that co-citation boosting was an appropriate strategy to improve prior art search tasks, while IPC classification of queries was improving retrieval effectiveness for technical survey tasks. Surprisingly, the use of the full body of the patent was always detrimental for search effectiveness. It was also observed that normalizing biomedical entities using curated dictionaries had simply no impact on the search tasks we evaluate. The search engine was finally implemented as a web-application within Novartis Pharma. The application is briefly described in the report. Conclusions: We have presented the development of a search engine dedicated to patent search, based on state of the art methods applied to patent corpora. We have shown that a proper tuning of the system to adapt to the various search tasks clearly increases the effectiveness of the system. We conclude that different search tasks demand different information retrieval engines’ settings in order to yield optimal end-user retrieval. [ABSTRACT FROM AUTHOR]

Gene function curation of the literature with Gene Ontology (GO) concepts is one particularly time-consuming task in genomics, and the help from bioinformatics is highly requested to keep up with the flow of publications. In 2004, the first BioCreative challenge already designed a task of automatic GO concepts assignment from a full text. At this time, results were judged far from reaching the performances required by real curation workflows. In particular, supervised approaches produced the most disappointing results because of lack of training data. Ten years later, the available curation data have massively grown. In 2013, the BioCreative IV GO task revisited the automatic GO assignment task. For this issue, we investigated the power of our supervised classifier, GOCat. GOCat computes similarities between an input text and already curated instances contained in a knowledge base to infer GO concepts. The subtask A consisted in selecting GO evidence sentences for a relevant gene in a full text. For this, we designed a state-of-the-art supervised statistical approach, using a naϊve Bayes classifier and the official training set, and obtained fair results. The subtask B consisted in predicting GO concepts from the previous output. For this, we applied GOCat and reached leading results, up to 65% for hierarchical recall in the top 20 outputted concepts. Contrary to previous competitions, machine learning has this time outperformed standard dictionary-based approaches. Thanks to BioCreative IV, we were able to design a complete workflow for curation: given a gene name and a full text, this system is able to select evidence sentences for curation and to deliver highly relevant GO concepts. Contrary to previous competitions, machine learning this time outperformed dictionary-based systems. Observed performances are sufficient for being used in a real semiautomatic curation workflow. [ABSTRACT FROM AUTHOR]

Gene Ontology (GO) annotation is a common task among model organism databases (MODs) for capturing gene function data from journal articles. It is a time-consuming and labor-intensive task, and is thus often considered as one of the bottlenecks in literature curation. There is a growing need for semiautomated or fully automated GO curation techniques that will help database curators to rapidly and accurately identify gene function information in full-length articles. Despite multiple attempts in the past, few studies have proven to be useful with regard to assisting real-world GO curation. The shortage of sentence-level training data and opportunities for interaction between text-mining developers and GO curators has limited the advances in algorithm development and corresponding use in practical circumstances. To this end, we organized a text-mining challenge task for literature-based GO annotation in BioCreative IV. More specifically, we developed two subtasks: (i) to automatically locate text passages that contain GO-relevant information (a text retrieval task) and (ii) to automatically identify relevant GO terms for the genes in a given article (a concept-recognition task). With the support from five MODs, we provided teams with >4000 unique text passages that served as the basis for each GO annotation in our task data. Such evidence text information has long been recognized as critical for text-mining algorithm development but was never made available because of the high cost of curation. In total, seven teams participated in the challenge task. From the team results, we conclude that the state of the art in automatically mining GO terms from literature has improved over the past decade while much progress is still needed for computer-assisted GO curation. Future work should focus on addressing remaining technical challenges for improved performance of automatic GO concept recognition and incorporating practical benefits of text-mining tools into real-world GO annotation. [ABSTRACT FROM AUTHOR]

Background: The annotation of protein post-translational modifications (PTMs) is an important task of UniProtKB curators and, with continuing improvements in experimental methodology, an ever greater number of articles are being published on this topic. To help curators cope with this growing body of information we have developed a system which extracts information from the scientific literature for the most frequently annotated PTMs in UniProtKB. Results: The procedure uses a pattern-matching and rule-based approach to extract sentences with information on the type and site of modification. A ranked list of protein candidates for the modification is also provided. For PTM extraction, precision varies from 57% to 94%, and recall from 75% to 95%, according to the type of modification. The procedure was used to track new publications on PTMs and to recover potential supporting evidence for phosphorylation sites annotated based on the results of large scale proteomics experiments. Conclusions: The information retrieval and extraction method we have developed in this study forms the basis of a simple tool for the manual curation of protein post-translational modifications in UniProtKB/Swiss-Prot. Our work demonstrates that even simple text-mining tools can be effectively adapted for database curation tasks, providing that a thorough understanding of the working process and requirements are first obtained. This system can be accessed at http://eagl.unige.ch/PTM/. [ABSTRACT FROM AUTHOR]

Background: Improving antibiotic prescribing practices is an important public-health priority given the widespread antimicrobial resistance. Establishing clinical practice guidelines is crucial to this effort, but their development is a complex task and their quality is directly related to the methodology and source of knowledge used. Objective: We present the design and the evaluation of a tool (KART) that aims to facilitate the creation and maintenance of clinical practice guidelines based on information retrieval techniques. Methods: KART consists of three main modules 1) a literature-based medical knowledge extraction module, which is built upon a specialized question-answering engine; 2) a module to normalize clinical recommendations based on automatic text categorizers; and 3) a module to manage clinical knowledge, which formalizes and stores clinical recommendations for further use. The evaluation of the usability and utility of KART followed the methodology of the cognitive walkthrough. Results: KART was designed and implemented as a standalone web application. The quantitative evaluation of the medical knowledge extraction module showed that 53% of the clinical recommendations generated by KART are consistent with existing clinical guidelines. The user-based evaluation confirmed this result by showing that KART was able to find a relevant antibiotic for half of the clinical scenarios tested. The automatic normalization of the recommendation produced mixed results among end-users. Conclusions: We have developed an innovative approach for the process of clinical guidelines development and maintenance in a context where available knowledge is increasing at a rate that cannot be sustained by humans. In contrast to existing knowledge authoring tools, KART not only provides assistance to normalize, formalize and store clinical recommendations, but also aims to facilitate knowledge building. [ABSTRACT FROM AUTHOR]

The available curated data lag behind current biological knowledge contained in the literature. Text mining can assist biologists and curators to locate and access this knowledge, for instance by characterizing the functional profile of publications. Gene Ontology (GO) category assignment in free text already supports various applications, such as powering ontology-based search engines, finding curation-relevant articles (triage) or helping the curator to identify and encode functions. Popular text mining tools for GO classification are based on so called thesaurus-based--or dictionary-based--approaches, which exploit similarities between the input text and GO terms themselves. But their effectiveness remains limited owing to the complex nature of GO terms, which rarely occur in text. In contrast, machine learning approaches exploit similarities between the input text and already curated instances contained in a knowledge base to infer a functional profile. GO Annotations (GOA) and MEDLINE make possible to exploit a growing amount of curated abstracts (97 000 in November 2012) for populating this knowledge base. Our study compares a state-of-the-art thesaurus-based system with a machine learning system (based on a k-Nearest Neighbours algorithm) for the task of proposing a functional profile for unseen MEDLINE abstracts, and shows how resources and performances have evolved. Systems are evaluated on their ability to propose for a given abstract the GO terms (2.8 on average) used for curation in GOA. We show that since 2006, although a massive effort was put into adding synonyms in GO (+300%), our thesaurus-based system effectiveness is rather constant, reaching from 0.28 to 0.31 for Recall at 20 (R20). In contrast, thanks to its knowledge base growth, our machine learning system has steadily improved, reaching from 0.38 in 2006 to 0.56 for R20 in 2012. Integrated in semi-automatic workflows or in fully automatic pipelines, such systems are more and more efficient to provide assistance to biologists. [ABSTRACT FROM AUTHOR]

Patent collections contain an important amount of medical-related knowledge, but existing tools were reported to lack of useful functionalities. We present here the development of TWINC, an advanced search engine dedicated to patent retrieval in the domain of health and life sciences. Our tool embeds two search modes: an ad hoc search to retrieve relevant patents given a short query and a related patent search to retrieve similar patents given a patent. Both search modes rely on tuning experiments performed during several patent retrieval competitions. Moreover, TWINC is enhanced with interactive modules, such as chemical query expansion, which is of prior importance to cope with various ways of naming biomedical entities. While the related patent search showed promising performances, the ad-hoc search resulted in fairly contrasted results. Nonetheless, TWINC performed well during the Chemathlon task of the PatOlympics competition and experts appreciated its usability. [ABSTRACT FROM AUTHOR]

We present a new approach to perform biomedical documents classification and prioritization for the Comparative Toxicogenomics Database (CTD). This approach is motivated by needs such as literature curation, in particular applied to the human health environment domain. The unique integration of chemical, genes/proteins and disease data in the biomedical literature may advance the identification of exposure and disease biomarkers, mechanisms of chemical actions, and the complex aetiologies of chronic diseases. Our approach aims to assist biomedical researchers when searching for relevant articles for CTD. The task is functionally defined as a binary classification task, where selected articles must also be ranked by order of relevance. We design a SVM classifier, which combines three main feature sets: an information retrieval system (EAGLi), a biomedical named-entity recognizer (MeSH term extraction), a gene normalization (GN) service (NormaGene) and an ad-hoc keyword recognizer for diseases and chemicals. The evaluation of the gene identification module was done on BioCreativeIII test data. Disease normalization is achieved with 95% precision and 93% of recall. The evaluation of the classification was done on the corpus provided by BioCreative organizers in 2012. The approach showed promising performance on the test data. [ABSTRACT FROM AUTHOR]

We aim at proposing a rule generation approach to automatically acquire structured rules that can be used in decision support systems for drug prescription. We apply a question-answering engine to answer specific information requests. The rule generation is seen as an equation problem, where the factors are known items of the rule (e.g., an infectious disease, caused by a given bacteria) and solutions are answered by the engine (e.g., some antibiotics). A top precision of 0.64 is reported, which means, for about two third of the knowledge rules of the benchmark, one of the recommended antibiotic was automatically acquired by the rule generation method. These results suggest that a significant fraction of the medical knowledge can be obtained by such an automatic text mining approach. [ABSTRACT FROM AUTHOR]