2,103 research outputs found
BioWorkbench: A High-Performance Framework for Managing and Analyzing Bioinformatics Experiments
Advances in sequencing techniques have led to exponential growth in
biological data, demanding the development of large-scale bioinformatics
experiments. Because these experiments are computation- and data-intensive,
they require high-performance computing (HPC) techniques and can benefit from
specialized technologies such as Scientific Workflow Management Systems (SWfMS)
and databases. In this work, we present BioWorkbench, a framework for managing
and analyzing bioinformatics experiments. This framework automatically collects
provenance data, including both performance data from workflow execution and
data from the scientific domain of the workflow application. Provenance data
can be analyzed through a web application that abstracts a set of queries to
the provenance database, simplifying access to provenance information. We
evaluate BioWorkbench using three case studies: SwiftPhylo, a phylogenetic tree
assembly workflow; SwiftGECKO, a comparative genomics workflow; and RASflow, a
RASopathy analysis workflow. We analyze each workflow from both computational
and scientific domain perspectives, by using queries to a provenance and
annotation database. Some of these queries are available as a pre-built feature
of the BioWorkbench web application. Through the provenance data, we show that
the framework is scalable and achieves high-performance, reducing up to 98% of
the case studies execution time. We also show how the application of machine
learning techniques can enrich the analysis process
Exposing Provenance Metadata Using Different RDF Models
A standard model for exposing structured provenance metadata of scientific
assertions on the Semantic Web would increase interoperability,
discoverability, reliability, as well as reproducibility for scientific
discourse and evidence-based knowledge discovery. Several Resource Description
Framework (RDF) models have been proposed to track provenance. However,
provenance metadata may not only be verbose, but also significantly redundant.
Therefore, an appropriate RDF provenance model should be efficient for
publishing, querying, and reasoning over Linked Data. In the present work, we
have collected millions of pairwise relations between chemicals, genes, and
diseases from multiple data sources, and demonstrated the extent of redundancy
of provenance information in the life science domain. We also evaluated the
suitability of several RDF provenance models for this crowdsourced data set,
including the N-ary model, the Singleton Property model, and the
Nanopublication model. We examined query performance against three commonly
used large RDF stores, including Virtuoso, Stardog, and Blazegraph. Our
experiments demonstrate that query performance depends on both RDF store as
well as the RDF provenance model
On Reasoning with RDF Statements about Statements using Singleton Property Triples
The Singleton Property (SP) approach has been proposed for representing and
querying metadata about RDF triples such as provenance, time, location, and
evidence. In this approach, one singleton property is created to uniquely
represent a relationship in a particular context, and in general, generates a
large property hierarchy in the schema. It has become the subject of important
questions from Semantic Web practitioners. Can an existing reasoner recognize
the singleton property triples? And how? If the singleton property triples
describe a data triple, then how can a reasoner infer this data triple from the
singleton property triples? Or would the large property hierarchy affect the
reasoners in some way? We address these questions in this paper and present our
study about the reasoning aspects of the singleton properties. We propose a
simple mechanism to enable existing reasoners to recognize the singleton
property triples, as well as to infer the data triples described by the
singleton property triples. We evaluate the effect of the singleton property
triples in the reasoning processes by comparing the performance on RDF datasets
with and without singleton properties. Our evaluation uses as benchmark the
LUBM datasets and the LUBM-SP datasets derived from LUBM with temporal
information added through singleton properties
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
Joining up health and bioinformatics: e-science meets e-health
CLEF (Co-operative Clinical e-Science Framework) is an MRC sponsored project in the e-Science programme that aims to establish methodologies and a technical infrastructure forthe next generation of integrated clinical and bioscience research. It is developing methodsfor managing and using pseudonymised repositories of the long-term patient histories whichcan be linked to genetic, genomic information or used to support patient care. CLEF concentrateson removing key barriers to managing such repositories ? ethical issues, informationcapture, integration of disparate sources into coherent ?chronicles? of events, userorientedmechanisms for querying and displaying the information, and compiling the requiredknowledge resources. This paper describes the overall information flow and technicalapproach designed to meet these aims within a Grid framework
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FAIR principles and the IEDB: short-term improvements and a long-term vision of OBO-foundry mediated machine-actionable interoperability.
The Immune Epitope Database (IEDB), at www.iedb.org, has the mission to make published experimental data relating to the recognition of immune epitopes easily available to the scientific public. By presenting curated data in a searchable database, we have liberated it from the tables and figures of journal articles, making it more accessible and usable by immunologists. Recently, the principles of Findability, Accessibility, Interoperability and Reusability have been formulated as goals that data repositories should meet to enhance the usefulness of their data holdings. We here examine how the IEDB complies with these principles and identify broad areas of success, but also areas for improvement. We describe short-term improvements to the IEDB that are being implemented now, as well as a long-term vision of true 'machine-actionable interoperability', which we believe will require community agreement on standardization of knowledge representation that can be built on top of the shared use of ontologies
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