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DNA methylation has been traditionally viewed as a highly stable epigenetic mark in postmitotic cells. However, postnatal brains appear to show stimulus-induced methylation changes, at least in a few identified CpG dinucleotides. How extensively the neuronal DNA methylome is regulated by neuronal activity is unknown. Using a next-generation sequencing-based(More)
DNA methylation has been traditionally viewed as a highly stable epigenetic mark in post-mitotic cells, however, postnatal brains appear to exhibit stimulus-induced methylation changes, at least in a few identified CpG dinucleotides. How extensively the neuronal DNA methylome is regulated Users may view, print, copy, download and text and data-mine the(More)
OBJECTIVE The differences between seronegative and seropositive rheumatoid arthritis (RA) have not been widely reported. We performed electronic health record (EHR)-based phenome-wide association studies (PheWAS) to identify disease associations in seropositive and seronegative RA. METHODS A validated algorithm identified RA subjects from the(More)
In this study, we describe our efforts in developing a semantic framework for representing the Quality Data Model (QDM) to support phenotype authoring and execution. We discuss the modeling challenges and potentials of the framework that could not only provide a semantic meta-data repository and data elements services, but also enable a standard-based(More)
BACKGROUND Electronic health records (EHRs) are increasingly used for clinical and translational research through the creation of phenotype algorithms. Currently, phenotype algorithms are most commonly represented as noncomputable descriptive documents and knowledge artifacts that detail the protocols for querying diagnoses, symptoms, procedures,(More)
OBJECTIVES To improve the accuracy of mining structured and unstructured components of the electronic medical record (EMR) by adding temporal features to automatically identify patients with rheumatoid arthritis (RA) with methotrexate-induced liver transaminase abnormalities. MATERIALS AND METHODS Codified information and a string-matching algorithm were(More)
This study describes our efforts in developing a standards-based semantic metadata repository for supporting electronic health record (EHR)-driven phenotype authoring and execution. Our system comprises three layers: 1) a semantic data element repository layer; 2) a semantic services layer; and 3) a phenotype application layer. In a prototype(More)
Electronic clinical quality measures (eCQMs) based on the Quality Data Model (QDM) cannot currently be executed against non-standardized electronic health record (EHR) data. To address this gap, we prototyped an implementation of a QDM-based eCQM using KNIME, an open-source platform comprising a wide array of computational workflow tools that are(More)
OBJECTIVE To review and evaluate available software tools for electronic health record-driven phenotype authoring in order to identify gaps and needs for future development. MATERIALS AND METHODS Candidate phenotype authoring tools were identified through (1) literature search in four publication databases (PubMed, Embase, Web of Science, and Scopus) and(More)