5,168 research outputs found
Interoperability and FAIRness through a novel combination of Web technologies
Data in the life sciences are extremely diverse and are stored in a broad spectrum of repositories ranging from those designed for particular data types (such as KEGG for pathway data or UniProt for protein data) to those that are general-purpose (such as FigShare, Zenodo, Dataverse or EUDAT). These data have widely different levels of sensitivity and security considerations. For example, clinical observations about genetic mutations in patients are highly sensitive, while observations of species diversity are generally not. The lack of uniformity in data models from one repository to another, and in the richness and availability of metadata descriptions, makes integration and analysis of these data a manual, time-consuming task with no scalability. Here we explore a set of resource-oriented Web design patterns for data discovery, accessibility, transformation, and integration that can be implemented by any general- or special-purpose repository as a means to assist users in finding and reusing their data holdings. We show that by using off-the-shelf technologies, interoperability can be achieved atthe level of an individual spreadsheet cell. We note that the behaviours of this architecture compare favourably to the desiderata defined by the FAIR Data Principles, and can therefore represent an exemplar implementation of those principles. The proposed interoperability design patterns may be used to improve discovery and integration of both new and legacy data, maximizing the utility of all scholarly outputs
PAV ontology: provenance, authoring and versioning
Provenance is a critical ingredient for establishing trust of published
scientific content. This is true whether we are considering a data set, a
computational workflow, a peer-reviewed publication or a simple scientific
claim with supportive evidence. Existing vocabularies such as DC Terms and the
W3C PROV-O are domain-independent and general-purpose and they allow and
encourage for extensions to cover more specific needs. We identify the specific
need for identifying or distinguishing between the various roles assumed by
agents manipulating digital artifacts, such as author, contributor and curator.
We present the Provenance, Authoring and Versioning ontology (PAV): a
lightweight ontology for capturing just enough descriptions essential for
tracking the provenance, authoring and versioning of web resources. We argue
that such descriptions are essential for digital scientific content. PAV
distinguishes between contributors, authors and curators of content and
creators of representations in addition to the provenance of originating
resources that have been accessed, transformed and consumed. We explore five
projects (and communities) that have adopted PAV illustrating their usage
through concrete examples. Moreover, we present mappings that show how PAV
extends the PROV-O ontology to support broader interoperability.
The authors strived to keep PAV lightweight and compact by including only
those terms that have demonstrated to be pragmatically useful in existing
applications, and by recommending terms from existing ontologies when
plausible.
We analyze and compare PAV with related approaches, namely Provenance
Vocabulary, DC Terms and BIBFRAME. We identify similarities and analyze their
differences with PAV, outlining strengths and weaknesses of our proposed model.
We specify SKOS mappings that align PAV with DC Terms.Comment: 22 pages (incl 5 tables and 19 figures). Submitted to Journal of
Biomedical Semantics 2013-04-26 (#1858276535979415). Revised article
submitted 2013-08-30. Second revised article submitted 2013-10-06. Accepted
2013-10-07. Author proofs sent 2013-10-09 and 2013-10-16. Published
2013-11-22. Final version 2013-12-06.
http://www.jbiomedsem.com/content/4/1/3
Automatic annotation of bioinformatics workflows with biomedical ontologies
Legacy scientific workflows, and the services within them, often present
scarce and unstructured (i.e. textual) descriptions. This makes it difficult to
find, share and reuse them, thus dramatically reducing their value to the
community. This paper presents an approach to annotating workflows and their
subcomponents with ontology terms, in an attempt to describe these artifacts in
a structured way. Despite a dearth of even textual descriptions, we
automatically annotated 530 myExperiment bioinformatics-related workflows,
including more than 2600 workflow-associated services, with relevant
ontological terms. Quantitative evaluation of the Information Content of these
terms suggests that, in cases where annotation was possible at all, the
annotation quality was comparable to manually curated bioinformatics resources.Comment: 6th International Symposium on Leveraging Applications (ISoLA 2014
conference), 15 pages, 4 figure
PQL: A Declarative Query Language over Dynamic Biological Schemata
We introduce the PQL query language (PQL) used in the GeneSeek genetic data integration project. PQL incorporates many features of query languages for semi-structured data. To this we add the ability to express metadata constraints like intended semantics and database curation approach. These constraints guide the dynamic generation of potential query plans. This allows a single query to remain relevant even in the presence of source and mediated schemas that are continually evolving, as is often the case in data integration
Semantic processing of EHR data for clinical research
There is a growing need to semantically process and integrate clinical data
from different sources for clinical research. This paper presents an approach
to integrate EHRs from heterogeneous resources and generate integrated data in
different data formats or semantics to support various clinical research
applications. The proposed approach builds semantic data virtualization layers
on top of data sources, which generate data in the requested semantics or
formats on demand. This approach avoids upfront dumping to and synchronizing of
the data with various representations. Data from different EHR systems are
first mapped to RDF data with source semantics, and then converted to
representations with harmonized domain semantics where domain ontologies and
terminologies are used to improve reusability. It is also possible to further
convert data to application semantics and store the converted results in
clinical research databases, e.g. i2b2, OMOP, to support different clinical
research settings. Semantic conversions between different representations are
explicitly expressed using N3 rules and executed by an N3 Reasoner (EYE), which
can also generate proofs of the conversion processes. The solution presented in
this paper has been applied to real-world applications that process large scale
EHR data.Comment: Accepted for publication in Journal of Biomedical Informatics, 2015,
preprint versio
The MeSH-gram Neural Network Model: Extending Word Embedding Vectors with MeSH Concepts for UMLS Semantic Similarity and Relatedness in the Biomedical Domain
Eliciting semantic similarity between concepts in the biomedical domain
remains a challenging task. Recent approaches founded on embedding vectors have
gained in popularity as they risen to efficiently capture semantic
relationships The underlying idea is that two words that have close meaning
gather similar contexts. In this study, we propose a new neural network model
named MeSH-gram which relies on a straighforward approach that extends the
skip-gram neural network model by considering MeSH (Medical Subject Headings)
descriptors instead words. Trained on publicly available corpus PubMed MEDLINE,
MeSH-gram is evaluated on reference standards manually annotated for semantic
similarity. MeSH-gram is first compared to skip-gram with vectors of size 300
and at several windows contexts. A deeper comparison is performed with tewenty
existing models. All the obtained results of Spearman's rank correlations
between human scores and computed similarities show that MeSH-gram outperforms
the skip-gram model, and is comparable to the best methods but that need more
computation and external resources.Comment: 6 pages, 2 table
Using Neural Networks for Relation Extraction from Biomedical Literature
Using different sources of information to support automated extracting of
relations between biomedical concepts contributes to the development of our
understanding of biological systems. The primary comprehensive source of these
relations is biomedical literature. Several relation extraction approaches have
been proposed to identify relations between concepts in biomedical literature,
namely, using neural networks algorithms. The use of multichannel architectures
composed of multiple data representations, as in deep neural networks, is
leading to state-of-the-art results. The right combination of data
representations can eventually lead us to even higher evaluation scores in
relation extraction tasks. Thus, biomedical ontologies play a fundamental role
by providing semantic and ancestry information about an entity. The
incorporation of biomedical ontologies has already been proved to enhance
previous state-of-the-art results.Comment: Artificial Neural Networks book (Springer) - Chapter 1
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