Search

Motivation: Despite the central role of diseases in biomedical research, there have been much fewer attempts to automatically determine which diseases are mentioned in a text—the task of disease name normalization (DNorm)—compared with other normalization tasks in biomedical text mining research. Methods: In this article we introduce the first machine learning approach for DNorm, using the NCBI disease corpus and the MEDIC vocabulary, which combines MeSH® and OMIM. Our method is a high-performing and mathematically principled framework for learning similarities between mentions and concept names directly from training data. The technique is based on pairwise learning to rank, which has not previously been applied to the normalization task but has proven successful in large optimization problems for information retrieval. Results: We compare our method with several techniques based on lexical normalization and matching, MetaMap and Lucene. Our algorithm achieves 0.782 micro-averaged F-measure and 0.809 macro-averaged F-measure, an increase over the highest performing baseline method of 0.121 and 0.098, respectively. Availability: The source code for DNorm is available at http://www.ncbi.nlm.nih.gov/CBBresearch/Lu/Demo/DNorm, along with a web-based demonstration and links to the NCBI disease corpus. Results on PubMed abstracts are available in PubTator: http://www.ncbi.nlm.nih.gov/CBBresearch/Lu/Demo/PubTator Contact: zhiyong.lu@nih.gov

Motivation: With high-throughput DNA sequencing costs dropping Results: We provide a number of cases to showcase the use of GQL for complex evidence collection, such as the evidence for large structural variations. Specifically, typical GQL queries can be written in 5–10 lines of high-level code and search large datasets (100 GB) in minutes. We also demonstrate its complementarity with other variant calling tools. Popular variant calling tools can achieve one order of magnitude speed-up by using GQL to retrieve evidence. Finally, we show how GQL can be used to query and compare multiple datasets. By separating the evidence and inference for variant calling, it frees all variant detection tools from the data intensive evidence collection and focuses on statistical inference. Availability: GQL can be downloaded from http://cseweb.ucsd.edu/~ckozanit/gql. Contact: ckozanit@ucsd.edu or vbafna@cs.ucsd.edu Supplementary information: Supplementary data are available at Bioinformatics online.

Motivation: Biomedical researchers often search through massive catalogues of literature to look for potential relationships between genes and diseases. Given the rapid growth of biomedical literature, automatic relation extraction, a crucial technology in biomedical literature mining, has shown great potential to support research of gene-related diseases. Existing work in this field has produced datasets that are limited both in scale and accuracy. Results: In this study, we propose a reliable and efficient framework that takes large biomedical literature repositories as inputs, identifies credible relationships between diseases and genes, and presents possible genes related to a given disease and possible diseases related to a given gene. The framework incorporates name entity recognition (NER), which identifies occurrences of genes and diseases in texts, association detection whereby we extract and evaluate features from gene–disease pairs, and ranking algorithms that estimate how closely the pairs are related. The F1-score of the NER phase is 0.87, which is higher than existing studies. The association detection phase takes drastically less time than previous work while maintaining a comparable F1-score of 0.86. The end-to-end result achieves a 0.259 F1-score for the top 50 genes associated with a disease, which performs better than previous work. In addition, we released a web service for public use of the dataset. Availability and Implementation: The implementation of the proposed algorithms is publicly available at http://gdr-web.rwebox.com/public_html/index.php?page=download.php. The web service is available at http://gdr-web.rwebox.com/public_html/index.php. Contact: jenny.wei@astrazeneca.com or kzhu@cs.sjtu.edu.cn Supplementary information: Supplementary data are available at Bioinformatics online.

International audience; BACKGROUND: As more scientific work is published, it is important to improve access to the biomedical literature. Since 2000, when Medical Subject Headings (MeSH) Concepts were introduced, the MeSH Thesaurus has been concept based. Nevertheless, information retrieval is still performed at the MeSH Descriptor or Supplementary Concept level. OBJECTIVE: The study assesses the benefit of using MeSH Concepts for indexing and information retrieval. METHODS: Three sets of queries were built for thirty-two rare diseases and twenty-two chronic diseases: (1) using PubMed Automatic Term Mapping (ATM), (2) using Catalog and Index of French-language Health Internet (CISMeF) ATM, and (3) extrapolating the MEDLINE citations that should be indexed with a MeSH Concept. RESULTS: Type 3 queries retrieve significantly fewer results than type 1 or type 2 queries (about 18,000 citations versus 200,000 for rare diseases; about 300,000 citations versus 2,000,000 for chronic diseases). CISMeF ATM also provides better precision than PubMed ATM for both disease categories. DISCUSSION: Using MeSH Concept indexing instead of ATM is theoretically possible to improve retrieval performance with the current indexing policy. However, using MeSH Concept information retrieval and indexing rules would be a fundamentally better approach. These modifications have already been implemented in the CISMeF search engine.

Motivation: Scholarly biomedical publications report on the findings of a research investigation. Scientists use a well-established discourse structure to relate their work to the state of the art, express their own motivation and hypotheses and report on their methods, results and conclusions. In previous work, we have proposed ways to explicitly annotate the structure of scientific investigations in scholarly publications. Here we present the means to facilitate automatic access to the scientific discourse of articles by automating the recognition of 11 categories at the sentence level, which we call Core Scientific Concepts (CoreSCs). These include: Hypothesis, Motivation, Goal, Object, Background, Method, Experiment, Model, Observation, Result and Conclusion. CoreSCs provide the structure and context to all statements and relations within an article and their automatic recognition can greatly facilitate biomedical information extraction by characterizing the different types of facts, hypotheses and evidence available in a scientific publication. Results: We have trained and compared machine learning classifiers (support vector machines and conditional random fields) on a corpus of 265 full articles in biochemistry and chemistry to automatically recognize CoreSCs. We have evaluated our automatic classifications against a manually annotated gold standard, and have achieved promising accuracies with ‘Experiment’, ‘Background’ and ‘Model’ being the categories with the highest F1-scores (76%, 62% and 53%, respectively). We have analysed the task of CoreSC annotation both from a sentence classification as well as sequence labelling perspective and we present a detailed feature evaluation. The most discriminative features are local sentence features such as unigrams, bigrams and grammatical dependencies while features encoding the document structure, such as section headings, also play an important role for some of the categories. We discuss the usefulness of automatically generated CoreSCs in two biomedical applications as well as work in progress. Availability: A web-based tool for the automatic annotation of articles with CoreSCs and corresponding documentation is available online at http://www.sapientaproject.com/softwarehttp://www.sapientaproject.com also contains detailed information pertaining to CoreSC annotation and links to annotation guidelines as well as a corpus of manually annotated articles, which served as our training data. Contact: liakata@ebi.ac.uk Supplementary information: Supplementary data are available at Bioinformatics online.

Motivation: Numerous annotations are available that functionally characterize genes and proteins with regard to molecular process, cellular localization, tissue expression, protein domain composition, protein interaction, disease association and other properties. Searching this steadily growing amount of information can lead to the discovery of new biological relationships between genes and proteins. To facilitate the searches, methods are required that measure the annotation similarity of genes and proteins. However, most current similarity methods are focused only on annotations from the Gene Ontology (GO) and do not take other annotation sources into account. Results: We introduce the new method BioSim that incorporates multiple sources of annotations to quantify the functional similarity of genes and proteins. We compared the performance of our method with four other well-known methods adapted to use multiple annotation sources. We evaluated the methods by searching for known functional relationships using annotations based only on GO or on our large data warehouse BioMyn. This warehouse integrates many diverse annotation sources of human genes and proteins. We observed that the search performance improved substantially for almost all methods when multiple annotation sources were included. In particular, our method outperformed the other methods in terms of recall and average precision. Contact: mario.albrecht@mpi-inf.mpg.de Supplementary Information: Supplementary data are available at Bioinformatics online.

Motivation: Research in the biomedical domain can have a major impact through open sharing of the data produced. For this reason, it is important to be able to identify instances of data production and deposition for potential re-use. Herein, we report on the automatic identification of data deposition statements in research articles. Results: We apply machine learning algorithms to sentences extracted from full-text articles in PubMed Central in order to automatically determine whether a given article contains a data deposition statement, and retrieve the specific statements. With an Support Vector Machine classifier using conditional random field determined deposition features, articles containing deposition statements are correctly identified with 81% F-measure. An error analysis shows that almost half of the articles classified as containing a deposition statement by our method but not by the gold standard do indeed contain a deposition statement. In addition, our system was used to process articles in PubMed Central, predicting that a total of 52 932 articles report data deposition, many of which are not currently included in the Secondary Source Identifier [si] field for MEDLINE citations. Availability: All annotated datasets described in this study are freely available from the NLM/NCBI website at http://www.ncbi.nlm.nih.gov/CBBresearch/Fellows/Neveol/DepositionDataSets.zip Contact: aurelie.neveol@nih.gov; john.wilbur@nih.gov; zhiyong.lu@nih.gov Supplementary Information: Supplementary data are available at Bioinformatics online.

Motivation: Recognizing words that are key to a document is important for ranking relevant scientific documents. Traditionally, important words in a document are either nominated subjectively by authors and indexers or selected objectively by some statistical measures. As an alternative, we propose to use documents' words popularity in user queries to identify click-words, a set of prominent words from the users' perspective. Although they often overlap, click-words differ significantly from other document keywords. Results: We developed a machine learning approach to learn the unique characteristics of click-words. Each word was represented by a set of features that included different types of information, such as semantic type, part of speech tag, term frequency–inverse document frequency (TF–IDF) weight and location in the abstract. We identified the most important features and evaluated our model using 6 months of PubMed click-through logs. Our results suggest that, in addition to carrying high TF–IDF weight, click-words tend to be biomedical entities, to exist in article titles, and to occur repeatedly in article abstracts. Given the abstract and title of a document, we are able to accurately predict the words likely to appear in user queries that lead to document clicks. Contact: luzh@ncbi.nlm.nih.gov Supplementary information: Supplementary data are available at Bioinformatics online.

Motivation: The ultimate goal of abbreviation management is to disambiguate every occurrence of an abbreviation into its expanded form (concept or sense). To collect expanded forms for abbreviations, previous studies have recognized abbreviations and their expanded forms in parenthetical expressions of bio-medical texts. However, expanded forms extracted by abbreviation recognition are mixtures of concepts/senses and their term variations. Consequently, a list of expanded forms should be structured into a sense inventory, which provides possible concepts or senses for abbreviation disambiguation. Results: A sense inventory is a key to robust management of abbreviations. Therefore, we present a supervised approach for clustering expanded forms. The experimental result reports 0.915 F1 score in clustering expanded forms. We then investigate the possibility of conflicts of protein and gene names with abbreviations. Finally, an experiment of abbreviation disambiguation on the sense inventory yielded 0.984 accuracy and 0.986 F1 score using the dataset obtained from MEDLINE abstracts. Availability: The sense inventory and disambiguator of abbreviations are accessible at http://www.nactem.ac.uk/software/acromine/ and http://www.nactem.ac.uk/software/acromine_disambiguation/ Contact: okazaki@chokkan.org

Motivation: Describing biological sample variables with ontologies is complex due to the cross-domain nature of experiments. Ontologies provide annotation solutions; however, for cross-domain investigations, multiple ontologies are needed to represent the data. These are subject to rapid change, are often not interoperable and present complexities that are a barrier to biological resource users. Results: We present the Experimental Factor Ontology, designed to meet cross-domain, application focused use cases for gene expression data. We describe our methodology and open source tools used to create the ontology. These include tools for creating ontology mappings, ontology views, detecting ontology changes and using ontologies in interfaces to enhance querying. The application of reference ontologies to data is a key problem, and this work presents guidelines on how community ontologies can be presented in an application ontology in a data-driven way. Availability: http://www.ebi.ac.uk/efo Contact: malone@ebi.ac.uk Supplementary information: Supplementary data are available at Bioinformatics online.

Objective: Clinical notes, typically written in natural language, often contain substructure that divides them into sections, such as “History of Present Illness” or “Family Medical History.” The authors designed and evaluated an algorithm (“SecTag”) to identify both labeled and unlabeled (implied) note section headers in “history and physical examination” documents (“H&P notes”). Design: The SecTag algorithm uses a combination of natural language processing techniques, word variant recognition with spelling correction, terminology-based rules, and naive Bayesian scoring methods to identify note section headers. Eleven physicians evaluated SecTag's performance on 319 randomly chosen H&P notes. Measurements: The primary outcomes were the algorithm's recall and precision in identifying all document sections and a predefined list of twenty-nine major sections. A secondary outcome was to evaluate the algorithm's ability to recognize the correct start and end boundaries of identified sections. Results: The SecTag algorithm identified 16,036 total sections and 7,858 major sections. Physician evaluators classified 15,329 as true positives and identified 160 sections omitted by SecTag. The recall and precision of the SecTag algorithm were 99.0 and 95.6% for all sections, 98.6 and 96.2% for major sections, and 96.6 and 86.8% for unlabeled sections. The algorithm determined the correct starting and ending text boundaries for 94.8% of labeled sections and 85.9% of unlabeled sections. Conclusions: The SecTag algorithm accurately identified both labeled and unlabeled sections in history and physical documents. This type of algorithm may assist in natural language processing applications, such as clinical decision support systems or competency assessment for medical trainees.

Objective: We explored automated concept-based indexing of unstructured figure captions to improve retrieval of images from radiology journals. Design: The MetaMap Transfer program (MMTx) was used to map the text of 84,846 figure captions from 9,004 peer-reviewed, English-language articles to concepts in three controlled vocabularies from the UMLS Metathesaurus, version 2006AA. Sampling procedures were used to estimate the standard information-retrieval metrics of precision and recall, and to evaluate the degree to which concept-based retrieval improved image retrieval. Measurements: Precision was estimated based on a sample of 250 concepts. Recall was estimated based on a sample of 40 concepts. The authors measured the impact of concept-based retrieval to improve upon keyword- based retrieval in a random sample of 10,000 search queries issued by users of a radiology image search engine. Results: Estimated precision was 0.897 (95% confidence interval, 0.857-0.937). Estimated recall was 0.930 (95% confidence interval, 0.838-1.000). In 5,535 of 10,000 search queries (55%), concept-based retrieval found results not identified by simple keyword matching; in 2,086 searches (21%), more than 75% of the results were found by concept-based search alone. Conclusion: Concept-based indexing of radiology journal figure captions achieved very high precision and recall, and significantly improved image retrieval.

This study sought to assess the value of the Health Level 7/U.S. Food and Drug Administration Structured Product Labeling (SPL) drug knowledge representation standard and its associated terminology sources for drug-intolerance (allergy) decision support in computerized provider order entry (CPOE) systems.The Regenstrief Institute CPOE drug-intolerance issue detection system and its knowledge base was compared with a method based on existing SPL label content enriched with knowledge sources used with SPL (NDF-RT/MeSH). Both methods were applied to a large set of drug-intolerance (allergy) records, drug orders, and medication dispensing records covering50,000 patients over 30 years.The number of drug-intolerance issues detected by both methods was counted, as well as the number of patients with issues, number of distinct drugs, and number of distinct intolerances. The difference between drug-intolerance issues detected or missed by either method was qualitatively analyzed.Although70% of terms were mapped to SPL, the new approach detected four times as many drug-intolerance issues on twice as many patients.The SPL-based approach is more sensitive and suggests that mapping local dictionaries to SPL, and enhancing the depth and breadth of coverage of SPL content are worth accelerating. The study also highlights specificity problems known to trouble drug-intolerance decision support and suggests how terminology and methods of recording drug intolerances could be improved.

Objective To develop methods for building corpus-specific sense inventories of abbreviations occurring in clinical documents. Design A corpus of internal medicine admission notes was collected and instances of each clinical abbreviation in the corpus were clustered to different sense clusters. One instance from each cluster was manually annotated to generate a final list of senses. Two clustering-based methods (Expectation Maximization—EM and Farthest First—FF) and one random sampling method for sense detection were evaluated using a set of 12 clinical abbreviations. Measurements The clustering-based sense detection methods were evaluated using a set of clinical abbreviations that were manually sense annotated. “Sense Completeness” and “Annotation Cost” were used to measure the performance of different methods. Clustering error rates were also reported for different clustering algorithms. Results A clustering-based semi-automated method was developed to build corpus-specific sense inventories for abbreviations in hospital admission notes. Evaluation demonstrated that this method could largely reduce manual annotation cost and increase the completeness of sense inventories when compared with a manual annotation method using random samples. Conclusion The authors developed an effective clustering-based method for building corpus-specific sense inventories for abbreviations in a clinical corpus. To the best of the authors knowledge, this is the first time clustering technologies have been used to help building sense inventories of abbreviations in clinical text. The results demonstrated that the clustering-based method performed better than the manual annotation method using random samples for the task of building sense inventories of clinical abbreviations.

Motivation: Existing projects that focus on the semiautomatic addition of links between existing terms in the Open Biomedical Ontologies can take advantage of reasoners that can make new inferences between terms that are based on the added formal definitions and that reflect nonalignments between the linked terms. However, these projects require that these definitions be necessary and sufficient, a strong requirement that often does not hold. If such definitions cannot be added, the reasoners cannot point to the nonalignments through the suggestion of new inferences. Results: We describe a methodology by which we have identified over 1900 instances of nonredundant nonalignments between terms from the Gene Ontology (GO) biological process (BP), cellular component (CC) and molecular function (MF) ontologies, Chemical Entities of Biological Interest (ChEBI) and the Cell Type Ontology (CL). Many of the 39.8% of these nonalignments whose object terms are more atomic than the subject terms are not currently examined in other ontology-enrichment projects due to the fact that the necessary and sufficient conditions required for the inferences are not currently examined. Analysis of the ratios of nonalignments to assertions from which the nonalignments were identified suggests that BP–MF, BP–BP, BP–CL and CC–CC terms are relatively well-aligned, while ChEBI–MF, BP–ChEBI and CC–MF terms are relatively not aligned well. We propose four ways to resolve an identified nonalignment and recommend an analogous implementation of our methodology in ontology-enrichment tools to identify types of nonalignments that are currently not detected. Availability: The nonalignments discussed in this article may be viewed at http://compbio.uchsc.edu/Hunter_lab/Bada/nonalignments_2008_03_06.html. Code for the generation of these nonalignments is available upon request. Contact: mike.bada@uchsc.edu

Objective: To characterize PubMed usage over a typical day and compare it to previous studies of user behavior on Web search engines. Design: We performed a lexical and semantic analysis of 2,689,166 queries issued on PubMed over 24 consecutive hours on a typical day. Measurements: We measured the number of queries, number of distinct users, queries per user, terms per query, common terms, Boolean operator use, common phrases, result set size, MeSH categories, used semantic measurements to group queries into sessions, and studied the addition and removal of terms from consecutive queries to gauge search strategies. Results: The size of the result sets from a sample of queries showed a bimodal distribution, with peaks at approximately 3 and 100 results, suggesting that a large group of queries was tightly focused and another was broad. Like Web search engine sessions, most PubMed sessions consisted of a single query. However, PubMed queries contained more terms. Conclusion: PubMed's usage profile should be considered when educating users, building user interfaces, and developing future biomedical information retrieval systems. J Am Med Inform Assoc. 2007;14:212-220. DOI 10.1197/jamia.M2191.

Motivation: Ontologies are an everyday tool in biomedicine to capture and represent knowledge. However, many ontologies lack a high degree of coverage in their domain and need to improve their overall quality and maturity. Automatically extending sets of existing terms will enable ontology engineers to systematically improve text-based ontologies level by level. Results: We developed an approach to extend ontologies by discovering new terms which are in a sibling relationship to existing terms of an ontology. For this purpose, we combined two approaches which retrieve new terms from the web. The first approach extracts siblings by exploiting the structure of HTML documents, whereas the second approach uses text mining techniques to extract siblings from unstructured text. Our evaluation against MeSH (Medical Subject Headings) shows that our method for sibling discovery is able to suggest first-class ontology terms and can be used as an initial step towards assessing the completeness of ontologies. The evaluation yields a recall of 80% at a precision of 61% where the two independent approaches are complementing each other. For MeSH in particular, we show that it can be considered complete in its medical focus area. We integrated the work into DOG4DAG, an ontology generation plugin for the editors OBO-Edit and Protégé, making it the first plugin that supports sibling discovery on-the-fly. Availability: Sibling discovery for ontology is available as part of DOG4DAG (www.biotec.tu-dresden.de/research/schroeder/dog4dag) for both Protégé 4.1 and OBO-Edit 2.1. Contact: ms@biotec.tu-dresden.de; goetz.fabian@biotec.tu-dresden.de Supplementary information: Supplementary data are available at Bioinformatics online.

OBJECTIVE This paper examines the use of Semantic MEDLINE, a natural language processing application enhanced with a statistical algorithm known as Combo, as a potential decision support tool for clinicians. Semantic MEDLINE summarizes text in PubMed citations, transforming it into compact declarations that are filtered according to a user's information need that can be displayed in a graphic interface. Integration of the Combo algorithm enables Semantic MEDLINE to deliver information salient to many diverse needs. METHODS The authors selected three disease topics and crafted PubMed search queries to retrieve citations addressing the prevention of these diseases. They then processed the citations with Semantic MEDLINE, with the Combo algorithm enhancement. To evaluate the results, they constructed a reference standard for each disease topic consisting of preventive interventions recommended by a commercial decision support tool. RESULTS Semantic MEDLINE with Combo produced an average recall of 79% in primary and secondary analyses, an average precision of 45%, and a final average F-score of 0.57. CONCLUSION This new approach to point-of-care information delivery holds promise as a decision support tool for clinicians. Health sciences libraries could implement such technologies to deliver tailored information to their users.

Objective: To use the semantic and structural properties in the Unified Medical Language System (UMLS) Metathesaurus to characterize and discover potential relationships. Design: The UMLS integrates knowledge from several biomedical terminologies. This knowledge can be used to discover implicit semantic relationships between concepts. In this paper, the authors propose a problem- independent approach for discovering potential terminological relationships that employs semantic abstraction of indirect relationship paths to perform classification and analysis of network theoretical measures such as topological overlap, preferential attachment, graph partitioning, and number of indirect paths. Using different versions of the UMLS, the authors evaluate the proposed approach's ability to predict newly added relationships. Measurements: Classification accuracy, precision-recall. Results: Strong discriminative characteristics were observed with a semantic abstraction based classifier (classification accuracy of 91%), the average number of indirect paths, preferential attachment, and graph partitioning to identify potential relationships. The proposed relationship prediction algorithm resulted in 56% recall in top 10 results for new relationships added to subsequent versions of the UMLS between 2005 and 2007. Conclusions: The UMLS has sufficient knowledge to enable discovery of potential terminological relationships.

THE INVESTIGATION IS CONCERNED WITH THE DEVELOPMENT OF AUTOMATIC INDEXING, ABSTRACTING, AND EXTRACTING SYSTEMS. BASIC INVESTIGATIONS IN ENGLISH MORPHOLOGY, PHONETICS, AND SYNTAX ARE PURSUED AS NECESSARY MEANS TO THIS END. IN THE FIRST SECTION THE THEORY AND DESIGN OF THE "SENTENCE DICTIONARY" EXPERIMENT IN AUTOMATIC EXTRACTION IS OUTLINED. SOME OF THE COMPUTER PROGRAMS NEEDED FOR THIS EXPERIMENT HAVE BEEN COMPLETED--DOCUMENTATION FOR THESE PROGRAMS IS INCLUDED. THE SECOND SECTION IS A DISCUSSION OF AN UNCONVENTIONAL INFORMATION RETRIEVAL SYSTEM WHICH MAY BE USED TO RETRIEVE ENGLISH OR RUSSIAN TECHNICAL LITERATURE. SPECIFICALLY, THERE IS A DISCUSSION OF THE QUERY LANGUAGE AND OF THE DATA BASE STRUCTURE. THE DESIGN OF THIS SYSTEM IS COMPLETE AND PROGRAMMING HAS BEGUN. THE THIRD SECTION COMPRISES A FINAL REPORT IN AN EXHAUSTIVE STUDY OF THE RELATION BETWEEN THE ORTHOGRAPHIC AND PHONETIC FORMS OF ENGLISH MONOSYLLABLES. THE PAPER REPORTS ON THE METHODS AND ACCURACY OF THE ALGORITHM TO MAP THE ORTHOGRAPHIC FORMS OF ENGLISH INTO THE PHONETIC FORM GIVEN BY FIVE DIFFERENT PHONETIC AUTHORITIES, OR TO MAP THE PHONETIC FORM GIVEN BY ONE AUTHORITY INTO THAT FIVEN BY ANOTHER. THIS DOCUMENT IS AVAILABLE AS AD-659-057 FROM THE CLEARINGHOUSE FOR FEDERAL SCIENTIFIC AND TECHNICAL INFORMATION, SPRINGFIELD, VIRGINIA 22151, $3.00 FOR HARD COPY, $0.65 FOR MICROFICHE, 118 PAGES. (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. DATABASE URL: http://eagl.unige.ch/GOCat/

Motivation: DNA copy number profiles characterize regions of chromosome gains, losses and breakpoints in tumor genomes. Although many models have been proposed to detect these alterations, it is not clear which model is appropriate before visual inspection the signal, noise and models for a particular profile. Results: We propose SegAnnDB, a Web-based computer vision system for genomic segmentation: first, visually inspect the profiles and manually annotate altered regions, then SegAnnDB determines the precise alteration locations using a mathematical model of the data and annotations. SegAnnDB facilitates collaboration between biologists and bioinformaticians, and uses the University of California, Santa Cruz genome browser to visualize copy number alterations alongside known genes. Availability and implementation: The breakpoints project on INRIA GForge hosts the source code, an Amazon Machine Image can be launched and a demonstration Web site is http://bioviz.rocq.inria.fr. Contact: toby@sg.cs.titech.ac.jp Supplementary information: Supplementary data are available at Bioinformatics online.

Background: Adequate health literacy is important for people to maintain good health and manage diseases and injuries. Educational text, either retrieved from the Internet or provided by a doctor’s office, is a popular method to communicate health-related information. Unfortunately, it is difficult to write text that is easy to understand, and existing approaches, mostly the application of readability formulas, have not convincingly been shown to reduce the difficulty of text. Objective: To develop an evidence-based writer support tool to improve perceived and actual text difficulty. To this end, we are developing and testing algorithms that automatically identify difficult sections in text and provide appropriate, easier alternatives; algorithms that effectively reduce text difficulty will be included in the support tool. This work describes the user evaluation with an independent writer of an automated simplification algorithm using term familiarity. Methods: Term familiarity indicates how easy words are for readers and is estimated using term frequencies in the Google Web Corpus. Unfamiliar words are algorithmically identified and tagged for potential replacement. Easier alternatives consisting of synonyms, hypernyms, definitions, and semantic types are extracted from WordNet, the Unified Medical Language System (UMLS), and Wiktionary and ranked for a writer to choose from to simplify the text. We conducted a controlled user study with a representative writer who used our simplification algorithm to simplify texts. We tested the impact with representative consumers. The key independent variable of our study is lexical simplification, and we measured its effect on both perceived and actual text difficulty. Participants were recruited from Amazon’s Mechanical Turk website. Perceived difficulty was measured with 1 metric, a 5-point Likert scale. Actual difficulty was measured with 3 metrics: 5 multiple-choice questions alongside each text to measure understanding, 7 multiple-choice questions without the text for learning, and 2 free recall questions for information retention. Results: Ninety-nine participants completed the study. We found strong beneficial effects on both perceived and actual difficulty. After simplification, the text was perceived as simpler ( P

Motivation: Ontologies provide a structured representation of the concepts of a domain of knowledge as well as the relations between them. Attribute ontologies are used to describe the characteristics of the items of a domain, such as the functions of proteins or the signs and symptoms of disease, which opens the possibility of searching a database of items for the best match to a list of observed or desired attributes. However, naive search methods do not perform well on realistic data because of noise in the data, imprecision in typical queries and because individual items may not display all attributes of the category they belong to. Results:: We present a method for combining ontological analysis with Bayesian networks to deal with noise, imprecision and attribute frequencies and demonstrate an application of our method as a differential diagnostic support system for human genetics. Availability: We provide an implementation for the algorithm and the benchmark at http://compbio.charite.de/boqa/. Contact: Sebastian.Bauer@charite.de or Peter.Robinson@charite.de Supplementary Information: Supplementary Material for this article is available at Bioinformatics online.

Objective Although electronic notes have advantages compared to handwritten notes, they take longer to write and promote information redundancy in electronic health records (EHRs). We sought to quantify redundancy in clinical documentation by studying collections of physician notes in an EHR. Design and methods We implemented a retrospective design to gather all electronic admission, progress, resident signout and discharge summary notes written during 100 randomly selected patient admissions within a 6 month period. We modified and applied a Levenshtein edit-distance algorithm to align and compare the documents written for each of the 100 admissions. We then identified and measured the amount of text duplicated from previous notes. Finally, we manually reviewed the content that was conserved between note types in a subsample of notes. Measurements We measured the amount of new information in a document, which was calculated as the number of words that did not match with previous documents divided by the length, in words, of the document. Results are reported as the percentage of information in a document that had been duplicated from previously written documents. Results Signout and progress notes proved to be particularly redundant, with an average of 78% and 54% information duplicated from previous documents respectively. There was also significant information duplication between document types (eg, from an admission note to a progress note). Conclusion The study established the feasibility of exploring redundancy in the narrative record with a known sequence alignment algorithm used frequently in the field of bioinformatics. The findings provide a foundation for studying the usefulness and risks of redundancy in the EHR.