281 research outputs found
HyQue: evaluating hypotheses using Semantic Web technologies
<p>Abstract</p> <p>Background</p> <p>Key to the success of e-Science is the ability to computationally evaluate expert-composed hypotheses for validity against experimental data. Researchers face the challenge of collecting, evaluating and integrating large amounts of diverse information to compose and evaluate a hypothesis. Confronted with rapidly accumulating data, researchers currently do not have the software tools to undertake the required information integration tasks.</p> <p>Results</p> <p>We present HyQue, a Semantic Web tool for querying scientific knowledge bases with the purpose of evaluating user submitted hypotheses. HyQue features a knowledge model to accommodate diverse hypotheses structured as events and represented using Semantic Web languages (RDF/OWL). Hypothesis validity is evaluated against experimental and literature-sourced evidence through a combination of SPARQL queries and evaluation rules. Inference over OWL ontologies (for type specifications, subclass assertions and parthood relations) and retrieval of facts stored as Bio2RDF linked data provide support for a given hypothesis. We evaluate hypotheses of varying levels of detail about the genetic network controlling galactose metabolism in <it>Saccharomyces cerevisiae</it> to demonstrate the feasibility of deploying such semantic computing tools over a growing body of structured knowledge in Bio2RDF.</p> <p>Conclusions</p> <p>HyQue is a query-based hypothesis evaluation system that can currently evaluate hypotheses about the galactose metabolism in <it>S. cerevisiae</it>. Hypotheses as well as the supporting or refuting data are represented in RDF and directly linked to one another allowing scientists to browse from data to hypothesis and <it>vice versa.</it> HyQue hypotheses and data are available at <url>http://semanticscience.org/projects/hyque</url>.</p
Creating Fair Models of Atherosclerotic Cardiovascular Disease Risk
Guidelines for the management of atherosclerotic cardiovascular disease
(ASCVD) recommend the use of risk stratification models to identify patients
most likely to benefit from cholesterol-lowering and other therapies. These
models have differential performance across race and gender groups with
inconsistent behavior across studies, potentially resulting in an inequitable
distribution of beneficial therapy. In this work, we leverage adversarial
learning and a large observational cohort extracted from electronic health
records (EHRs) to develop a "fair" ASCVD risk prediction model with reduced
variability in error rates across groups. We empirically demonstrate that our
approach is capable of aligning the distribution of risk predictions
conditioned on the outcome across several groups simultaneously for models
built from high-dimensional EHR data. We also discuss the relevance of these
results in the context of the empirical trade-off between fairness and model
performance
Improving Palliative Care with Deep Learning
Improving the quality of end-of-life care for hospitalized patients is a
priority for healthcare organizations. Studies have shown that physicians tend
to over-estimate prognoses, which in combination with treatment inertia results
in a mismatch between patients wishes and actual care at the end of life. We
describe a method to address this problem using Deep Learning and Electronic
Health Record (EHR) data, which is currently being piloted, with Institutional
Review Board approval, at an academic medical center. The EHR data of admitted
patients are automatically evaluated by an algorithm, which brings patients who
are likely to benefit from palliative care services to the attention of the
Palliative Care team. The algorithm is a Deep Neural Network trained on the EHR
data from previous years, to predict all-cause 3-12 month mortality of patients
as a proxy for patients that could benefit from palliative care. Our
predictions enable the Palliative Care team to take a proactive approach in
reaching out to such patients, rather than relying on referrals from treating
physicians, or conduct time consuming chart reviews of all patients. We also
present a novel interpretation technique which we use to provide explanations
of the model's predictions.Comment: IEEE International Conference on Bioinformatics and Biomedicine 201
Learning signals of adverse drug-drug interactions from the unstructured text of electronic health records.
Drug-drug interactions (DDI) account for 30% of all adverse drug reactions, which are the fourth leading cause of death in the US. Current methods for post marketing surveillance primarily use spontaneous reporting systems for learning DDI signals and validate their signals using the structured portions of Electronic Health Records (EHRs). We demonstrate a fast, annotation-based approach, which uses standard odds ratios for identifying signals of DDIs from the textual portion of EHRs directly and which, to our knowledge, is the first effort of its kind. We developed a gold standard of 1,120 DDIs spanning 14 adverse events and 1,164 drugs. Our evaluations on this gold standard using millions of clinical notes from the Stanford Hospital confirm that identifying DDI signals from clinical text is feasible (AUROC=81.5%). We conclude that the text in EHRs contain valuable information for learning DDI signals and has enormous utility in drug surveillance and clinical decision support
Building a biomedical ontology recommender web service
<p>Abstract</p> <p>Background</p> <p>Researchers in biomedical informatics use ontologies and terminologies to annotate their data in order to facilitate data integration and translational discoveries. As the use of ontologies for annotation of biomedical datasets has risen, a common challenge is to identify ontologies that are best suited to annotating specific datasets. The number and variety of biomedical ontologies is large, and it is cumbersome for a researcher to figure out which ontology to use.</p> <p>Methods</p> <p>We present the <it>Biomedical Ontology Recommender web service</it>. The system uses textual metadata or a set of keywords describing a domain of interest and suggests appropriate ontologies for annotating or representing the data. The service makes a decision based on three criteria. The first one is <it>coverage</it>, or the ontologies that provide most terms covering the input text. The second is <it>connectivity</it>, or the ontologies that are most often mapped to by other ontologies. The final criterion is <it>size</it>, or the number of concepts in the ontologies. The service scores the ontologies as a function of scores of the annotations created using the National Center for Biomedical Ontology (NCBO) <it>Annotator web service</it>. We used all the ontologies from the UMLS Metathesaurus and the NCBO BioPortal.</p> <p>Results</p> <p>We compare and contrast our Recommender by an exhaustive functional comparison to previously published efforts. We evaluate and discuss the results of several recommendation heuristics in the context of three real world use cases. The best recommendations heuristics, rated âvery relevantâ by expert evaluators, are the ones based on coverage and connectivity criteria. The Recommender service (alpha version) is available to the community and is embedded into BioPortal.</p
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