MOTIVATION: The importance of clinical data in understanding the pathophysiology of complex disorders has prompted the launch of multiple initiatives designed to generate patient-level data from various modalities. While these studies can reveal important findings relevant to the disease, each study captures different yet complementary aspects and modalities which, when combined, generate a more comprehensive picture of disease etiology. However, achieving this requires a global integration of data across studies, which proves to be challenging given the lack of interoperability of cohort datasets. RESULTS: Here, we present the Data Steward Tool (DST), an application that allows for semi-automatic semantic integration of clinical data into ontologies and global data models and data standards. We demonstrate the applicability of the tool in the field of dementia research by establishing a Clinical Data Model (CDM) in this domain. The CDM currently consists of 277 common variables covering demographics (e.g. age and gender), diagnostics, neuropsychological tests and biomarker measurements. The DST combined with this disease-specific data model shows how interoperability between multiple, heterogeneous dementia datasets can be achieved. AVAILABILITY AND IMPLEMENTATION: The DST source code and Docker images are respectively available at https://github.com/SCAI-BIO/data-steward and https://hub.docker.com/r/phwegner/data-steward. Furthermore, the DST is hosted at https://data-steward.bio.scai.fraunhofer.de/data-steward. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

In text mining, document clustering describes the efforts to assign unstructured documents to clusters, which in turn usually refer to topics.Clustering is widely used in science for data retrieval and organisation.In this paper we present a new graph theoretical approach to document clustering and its application on a real-world data set.We will show that the wellknown graph partition to stable sets or cliques can be generalized to pseudostable sets or pseudocliques.This allows to make a soft clustering as well as a hard clustering.We will present an integer linear programming and a greedy approach for this NP-complete problem and discuss some results on random instances and some real world data for different similarity measures.

MOTIVATION: Chemical compounds like small signal molecules or other biological active chemical substances are an important entity class in life science publications and patents. Several representations and nomenclatures for chemicals like SMILES, InChI, IUPAC or trivial names exist. Only SMILES and InChI names allow a direct structure search, but in biomedical texts trivial names and Iupac like names are used more frequent. While trivial names can be found with a dictionary-based approach and in such a way mapped to their corresponding structures, it is not possible to enumerate all IUPAC names. In this work, we present a new machine learning approach based on conditional random fields (CRF) to find mentions of IUPAC and IUPAC-like names in scientific text as well as its evaluation and the conversion rate with available name-to-structure tools. RESULTS: We present an IUPAC name recognizer with an F(1) measure of 85.6% on a MEDLINE corpus. The evaluation of different CRF orders and offset conjunction orders demonstrates the importance of these parameters. An evaluation of hand-selected patent sections containing large enumerations and terms with mixed nomenclature shows a good performance on these cases (F(1) measure 81.5%). Remaining recognition problems are to detect correct borders of the typically long terms, especially when occurring in parentheses or enumerations. We demonstrate the scalability of our implementation by providing results from a full MEDLINE run. AVAILABILITY: We plan to publish the corpora, annotation guideline as well as the conditional random field model as a UIMA component.

With an overwhelming amount of biomedical knowledge recorded in texts, it is not surprising that there is so much interest in techniques which can identify, extract, manage, integrate and exploit this knowledge, and moreover discover new, hidden or unsuspected knowledge. For this reason, in the past five years, there has been an upsurge of research papers and overviews [ 1 – 5 ] on the topic of text mining from biomedical literature. In order to facilitate knowledge discovery in biomedicine there is a need for approaches which harvest and integrate information from text, biological databases, ontologies and terminological resources. To discover knowledge hidden in the large amount of biomedical texts, we need text mining techniques which go to levels of linguistic processing deeper than simple lexical and syntactic processing. Text mining beyond surface levels requires semantic information. In order to carry out semantic mining certain prerequisites are assumed such as rich levels of linguistic and semantic annotation supported by ontologies and other knowledge sources that provide the semantics of the annotation. Semantic text mining enables us to capture the relevant content of documents according to user needs.

BACKGROUND: Autoimmune diseases are disorders caused by an immune response directed against the body's own organs, tissues and cells. In practice more than 80 clinically distinct diseases, among them systemic lupus erythematosus and rheumatoid arthritis, are classified as autoimmune diseases. Although their etiology is unclear these diseases share certain similarities at the molecular level i.e. susceptibility regions on the chromosomes or the involvement of common genes. To gain an overview of these related diseases it is not feasible to do a literary review but it requires methods of automated analyses of the more than 500,000 Medline documents related to autoimmune disorders. RESULTS: In this paper we present the first version of the Autoimmune Disease Database which to our knowledge is the first comprehensive literature-based database covering all known or suspected autoimmune diseases. This dynamically compiled database allows researchers to link autoimmune diseases to the candidate genes or proteins through the use of named entity recognition which identifies genes/proteins in the corresponding Medline abstracts. The Autoimmune Disease Database covers 103 autoimmune disease concepts. This list was expanded to include synonyms and spelling variants yielding a list of over 1,200 disease names. The current version of the database provides links to 541,690 abstracts and over 5,000 unique genes/proteins. CONCLUSION: The Autoimmune Disease Database provides the researcher with a tool to navigate potential gene-disease relationships in Medline abstracts in the context of autoimmune diseases.

BACKGROUND: Identification of gene and protein names in biomedical text is a challenging task as the corresponding nomenclature has evolved over time. This has led to multiple synonyms for individual genes and proteins, as well as names that may be ambiguous with other gene names or with general English words. The Gene List Task of the BioCreAtIvE challenge evaluation enables comparison of systems addressing the problem of protein and gene name identification on common benchmark data. METHODS: The ProMiner system uses a pre-processed synonym dictionary to identify potential name occurrences in the biomedical text and associate protein and gene database identifiers with the detected matches. It follows a rule-based approach and its search algorithm is geared towards recognition of multi-word names. To account for the large number of ambiguous synonyms in the considered organisms, the system has been extended to use specific variants of the detection procedure for highly ambiguous and case-sensitive synonyms. Based on all detected synonyms for one abstract, the most plausible database identifiers are associated with the text. Organism specificity is addressed by a simple procedure based on additionally detected organism names in an abstract. RESULTS: The extended ProMiner system has been applied to the test cases of the BioCreAtIvE competition with highly encouraging results. In blind predictions, the system achieved an F-measure of approximately 0.8 for the organisms mouse and fly and about 0.9 for the organism yeast.

We estimate the number of microarrays that is required in order to gain reliable results from a common type of study: the pairwise comparison of different classes of samples. Current knowlegde seems to suffice for the construction of models that are realistic with respect to searches for individual differentially expressed genes. Such models allow to investigate the dependence of the required number of samples on the relevant parameters: the biological variability of the samples within each class; the fold changes in expression; the detection sensitivity of the microarrays; and the acceptable error rates of the results. We supply experimentalists with general conclusions as well as a freely accessible Java applet at http://cartan.gmd.de/~zien/classsize/ for fine tuning simulations to their particular actualities. Since the situation can be assumed to be very similar for large scale proteomics and metabolomics studies, our methods and results might also apply there.