Journal of biomedical informatics
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Integrating semantic dimension into clinical archetypes is necessary once modeling medical records. First, it enables semantic interoperability and, it offers applying semantic activities on clinical data and provides a higher design quality of Electronic Medical Record (EMR) systems. However, to obtain these advantages, designers need to use archetypes that cover semantic features of clinical concepts involved in their specific applications. In fact, most of archetypes filed within open repositories are expressed in the Archetype Definition Language (ALD) which allows defining only the syntactic structure of clinical concepts weakening semantic activities on the EMR content in the semantic web environment. This paper focuses on the modeling of an EMR prototype for infants affected by Cerebral Palsy (CP), using the dual model approach and integrating semantic web technologies. Such a modeling provides a better delivery of quality of care and ensures semantic interoperability between all involved therapies' information systems. ⋯ The degree of semantic interoperability that could be reached between EMR systems depends strongly on the quality of the used archetypes. Thus, the integration of semantic dimension in archetypes modeling process is crucial. By creating an ontological source and annotating archetypes, we create a supportive platform ensuring semantic interoperability between archetypes-based EMR-systems.
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Data extraction from original study reports is a time-consuming, error-prone process in systematic review development. Information extraction (IE) systems have the potential to assist humans in the extraction task, however majority of IE systems were not designed to work on Portable Document Format (PDF) document, an important and common extraction source for systematic review. In a PDF document, narrative content is often mixed with publication metadata or semi-structured text, which add challenges to the underlining natural language processing algorithm. Our goal is to categorize PDF texts for strategic use by IE systems. ⋯ The rule-based multi-pass sieve framework can be used effectively in categorizing texts extracted from PDF documents. Text classification is an important prerequisite step to leverage information extraction from PDF documents.
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Biomedical ontologies contain errors. Crowdsourcing, defined as taking a job traditionally performed by a designated agent and outsourcing it to an undefined large group of people, provides scalable access to humans. Therefore, the crowd has the potential to overcome the limited accuracy and scalability found in current ontology quality assurance approaches. ⋯ This disparity may account for the difference in performance - fewer search results indicate a more difficult task for the worker. The number of Internet search results could serve as a method to assess which tasks are appropriate for the crowd. These results suggest that the crowd fits better as an expert assistant, helping experts with their verification by completing the easy tasks and allowing experts to focus on the difficult tasks, rather than an expert replacement.
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An estimated 25% of type two diabetes mellitus (DM2) patients in the United States are undiagnosed due to inadequate screening, because it is prohibitive to administer laboratory tests to everyone. We assess whether electronic health record (EHR) phenotyping could improve DM2 screening compared to conventional models, even when records are incomplete and not recorded systematically across patients and practice locations, as is typically seen in practice. ⋯ EHR phenotyping resulted in markedly superior detection of DM2, even in the face of missing and unsystematically recorded data, based on the ROC curves. EHR phenotypes could more efficiently identify which patients do require, and don't require, further laboratory screening. When applied to the current number of undiagnosed individuals in the United States, we predict that incorporating EHR phenotype screening would identify an additional 400,000 patients with active, untreated diabetes compared to the conventional pre-screening models.
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Text mining can assist in the analysis and interpretation of large-scale biomedical data, helping biologists to quickly and cheaply gain confirmation of hypothesized relationships between biological entities. We set this question in the context of genome-wide association studies (GWAS), an actively emerging field that contributed to identify many genes associated with multifactorial diseases. These studies allow to identify groups of genes associated with the same phenotype, but provide no information about the relationships between these genes. ⋯ We propose a generic framework which we used to characterize the relationships between 10 genes reported associated with asthma by a previous GWAS. The results of this experiment showed that the similarities between these 10 genes were significantly stronger than would be expected by chance (one-sided p-value<0.01). The clustering of observed and randomly selected gene also allowed to generate hypotheses about potential functional relationships between these genes and thus contributed to the discovery of new candidate genes for asthma.