Biomedical ontology alignment: An approach based on representation learning

While representation learning techniques have shown great promise in application to a number of different NLP tasks, they have had little impact on the problem of ontology matching. Unlike past work that has focused on feature engineering, we present a novel representation learning approach that is tailored to the ontology matching task. Our approach is based on embedding ontological terms in a high-dimensional Euclidean space. This embedding is derived on the basis of a novel phrase retrofitting strategy through which semantic similarity information becomes inscribed onto fields of pre-trained word vectors. The resulting framework also incorporates a novel outlier detection mechanism based on a denoising autoencoder that is shown to improve performance. An ontology matching system derived using the proposed framework achieved an F-score of 94% on an alignment scenario involving the Adult Mouse Anatomical Dictionary and the Foundational Model of Anatomy ontology (FMA) as targets. This compares favorably with the best performing systems on the Ontology Alignment Evaluation Initiative anatomy challenge. We performed additional experiments on aligning FMA to NCI Thesaurus and to SNOMED CT based on a reference alignment extracted from the UMLS Metathesaurus. Our system obtained overall F-scores of 93.2% and 89.2% for these experiments, thus achieving state-of-the-art results

Atlas.txt : Linking Geo-referenced Data to Text for NLG

Peer reviewedPreprin

Advancing functional connectivity research from association to causation

Cognition and behavior emerge from brain network interactions, such that investigating causal interactions should be central to the study of brain function. Approaches that characterize statistical associations among neural time series-functional connectivity (FC) methods-are likely a good starting point for estimating brain network interactions. Yet only a subset of FC methods ('effective connectivity') is explicitly designed to infer causal interactions from statistical associations. Here we incorporate best practices from diverse areas of FC research to illustrate how FC methods can be refined to improve inferences about neural mechanisms, with properties of causal neural interactions as a common ontology to facilitate cumulative progress across FC approaches. We further demonstrate how the most common FC measures (correlation and coherence) reduce the set of likely causal models, facilitating causal inferences despite major limitations. Alternative FC measures are suggested to immediately start improving causal inferences beyond these common FC measures

GOMMA: a component-based infrastructure for managing and analyzing life science ontologies and their evolution

<p>Abstract</p> <p>Background</p> <p>Ontologies are increasingly used to structure and semantically describe entities of domains, such as genes and proteins in life sciences. Their increasing size and the high frequency of updates resulting in a large set of ontology versions necessitates efficient management and analysis of this data.</p> <p>Results</p> <p>We present GOMMA, a generic infrastructure for managing and analyzing life science ontologies and their evolution. GOMMA utilizes a generic repository to uniformly and efficiently manage ontology versions and different kinds of mappings. Furthermore, it provides components for ontology matching, and determining evolutionary ontology changes. These components are used by analysis tools, such as the Ontology Evolution Explorer (OnEX) and the detection of unstable ontology regions. We introduce the component-based infrastructure and show analysis results for selected components and life science applications. GOMMA is available at <url>http://dbs.uni-leipzig.de/GOMMA</url>.</p> <p>Conclusions</p> <p>GOMMA provides a comprehensive and scalable infrastructure to manage large life science ontologies and analyze their evolution. Key functions include a generic storage of ontology versions and mappings, support for ontology matching and determining ontology changes. The supported features for analyzing ontology changes are helpful to assess their impact on ontology-dependent applications such as for term enrichment. GOMMA complements OnEX by providing functionalities to manage various versions of mappings between two ontologies and allows combining different match approaches.</p

DiscoverySpace: an interactive data analysis application

DiscoverySpace is a graphical application for bioinformatics data analysis. Users can seamlessly traverse references between biological databases and draw together annotations in an intuitive tabular interface. Datasets can be compared using a suite of novel tools to aid in the identification of significant patterns. DiscoverySpace is of broad utility and its particular strength is in the analysis of serial analysis of gene expression (SAGE) data. The application is freely available online

Semantic Assistance for Data Utilization and Curation

We propose that most data stores for large organizations are ill-designed for the future, due to limited searchability of the databases. The study of the Semantic Web has been an emerging technology since first proposed by Berners-Lee. New vocabularies have emerged, such as FOAF, Dublin Core, and PROV-O ontologies. These vocabularies, combined, can relate people, places, things, and events. Technologies developed for the Semantic Web, namely the standardized vocabularies for expressing metadata, will make data easier to utilize. We gathered use cases for various data sources, from human resources to big enterprise. Most of our use cases reflect real-world data. We developed a software package for transforming data into these semantic vocabularies, and developed a method of querying via graphical constructs. The development and testing proved itself to be useful. We conclude that data can be preserved or revived through the use of the metadata techniques for the Semantic Web

Semantic Assistance for Data Utilization and Curation

We propose that most data stores for large organizations are ill-designed for the future, due to limited searchability of the databases. The study of the Semantic Web has been an emerging technology since first proposed by Berners-Lee. New vocabularies have emerged, such as FOAF, Dublin Core, and PROV-O ontologies. These vocabularies, combined, can relate people, places, things, and events. Technologies developed for the Semantic Web, namely the standardized vocabularies for expressing metadata, will make data easier to utilize. We gathered use cases for various data sources, from human resources to big enterprise. Most of our use cases reflect real-world data. We developed a software package for transforming data into these semantic vocabularies, and developed a method of querying via graphical constructs. The development and testing proved itself to be useful. We conclude that data can be preserved or revived through the use of the metadata techniques for the Semantic Web

Linked Data Quality Assessment and its Application to Societal Progress Measurement

In recent years, the Linked Data (LD) paradigm has emerged as a simple mechanism for employing the Web as a medium for data and knowledge integration where both documents and data are linked. Moreover, the semantics and structure of the underlying data are kept intact, making this the Semantic Web. LD essentially entails a set of best practices for publishing and connecting structure data on the Web, which allows publish- ing and exchanging information in an interoperable and reusable fashion. Many different communities on the Internet such as geographic, media, life sciences and government have already adopted these LD principles. This is confirmed by the dramatically growing Linked Data Web, where currently more than 50 billion facts are represented. With the emergence of Web of Linked Data, there are several use cases, which are possible due to the rich and disparate data integrated into one global information space. Linked Data, in these cases, not only assists in building mashups by interlinking heterogeneous and dispersed data from multiple sources but also empowers the uncovering of meaningful and impactful relationships. These discoveries have paved the way for scientists to explore the existing data and uncover meaningful outcomes that they might not have been aware of previously. In all these use cases utilizing LD, one crippling problem is the underlying data quality. Incomplete, inconsistent or inaccurate data affects the end results gravely, thus making them unreliable. Data quality is commonly conceived as fitness for use, be it for a certain application or use case. There are cases when datasets that contain quality problems, are useful for certain applications, thus depending on the use case at hand. Thus, LD consumption has to deal with the problem of getting the data into a state in which it can be exploited for real use cases. The insufficient data quality can be caused either by the LD publication process or is intrinsic to the data source itself. A key challenge is to assess the quality of datasets published on the Web and make this quality information explicit. Assessing data quality is particularly a challenge in LD as the underlying data stems from a set of multiple, autonomous and evolving data sources. Moreover, the dynamic nature of LD makes assessing the quality crucial to measure the accuracy of representing the real-world data. On the document Web, data quality can only be indirectly or vaguely defined, but there is a requirement for more concrete and measurable data quality metrics for LD. Such data quality metrics include correctness of facts wrt. the real-world, adequacy of semantic representation, quality of interlinks, interoperability, timeliness or consistency with regard to implicit information. Even though data quality is an important concept in LD, there are few methodologies proposed to assess the quality of these datasets. Thus, in this thesis, we first unify 18 data quality dimensions and provide a total of 69 metrics for assessment of LD. The first methodology includes the employment of LD experts for the assessment. This assessment is performed with the help of the TripleCheckMate tool, which was developed specifically to assist LD experts for assessing the quality of a dataset, in this case DBpedia. The second methodology is a semi-automatic process, in which the first phase involves the detection of common quality problems by the automatic creation of an extended schema for DBpedia. The second phase involves the manual verification of the generated schema axioms. Thereafter, we employ the wisdom of the crowds i.e. workers for online crowdsourcing platforms such as Amazon Mechanical Turk (MTurk) to assess the quality of DBpedia. We then compare the two approaches (previous assessment by LD experts and assessment by MTurk workers in this study) in order to measure the feasibility of each type of the user-driven data quality assessment methodology. Additionally, we evaluate another semi-automated methodology for LD quality assessment, which also involves human judgement. In this semi-automated methodology, selected metrics are formally defined and implemented as part of a tool, namely R2RLint. The user is not only provided the results of the assessment but also specific entities that cause the errors, which help users understand the quality issues and thus can fix them. Finally, we take into account a domain-specific use case that consumes LD and leverages on data quality. In particular, we identify four LD sources, assess their quality using the R2RLint tool and then utilize them in building the Health Economic Research (HER) Observatory. We show the advantages of this semi-automated assessment over the other types of quality assessment methodologies discussed earlier. The Observatory aims at evaluating the impact of research development on the economic and healthcare performance of each country per year. We illustrate the usefulness of LD in this use case and the importance of quality assessment for any data analysis