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We demonstrate a genome-wide method for the integration of many studies of gene expression of phenotypically similar disease processes, a method of multiplex meta-analysis. We use immune dysfunction as an example disease process.

There is increasing interest in using electronic health records (EHRs) to identify subjects for genomic association studies, due in part to the availability of large amounts of clinical data and the expected cost efficiencies of subject identification. We describe the construction and validation of an EHR-based algorithm to identify subjects with age-related cataracts.

This report, based on a workshop jointly sponsored the National Institute of Biomedical Imaging and Biomedical Engineering and the Office of the National Coordinator for Health Information Technology, examines the role and value of images as multimedia data in electronic health records (EHRs). The workshop, attended by a wide range of stakeholders, was motivated in part by the absence of image data from discussions of meaningful use of health information [...]

Because breast tissue composition partially predicts breast cancer risk, classification of mammography reports by breast tissue composition is important from both a scientific and clinical perspective. A method is presented for using the unstructured text of mammography reports to classify them into BI-RADS breast tissue composition categories. An algorithm that uses regular expressions to automatically determine BI-RADS breast tissue composition classes for unstructured mammography reports was developed. The algorithm assigns [...]

Thousands of complex-disease single-nucleotide polymorphisms (SNPs) have been discovered in genome-wide association studies (GWAS). However, these intragenic SNPs have not been collectively mined to unveil the genetic architecture between complex clinical traits. The authors hypothesize that biological annotations of host genes of trait-associated SNPs may reveal the biomolecular modularity across complex-disease traits and offer insights for drug repositioning.

Physicians are often unaware of the results of tests pending at discharge (TPADs). The authors designed and implemented an automated system to notify the responsible inpatient physician of the finalized results of TPADs using secure, network email. The system coordinates a series of electronic events triggered by the discharge time stamp and sends an email to the identified discharging attending physician once finalized results are available. A carbon copy is [...]

To evaluate data fragmentation across healthcare centers with regard to the accuracy of a high-throughput clinical phenotyping (HTCP) algorithm developed to differentiate (1) patients with type 2 diabetes mellitus (T2DM) and (2) patients with no diabetes.

Little is known about physicians' perception of the ease or difficulty of implementing electronic health records (EHR). This study identified factors related to the perceived difficulty of implementing EHR. 163 physicians completed surveys before and after the implementation of EHR in an externally funded pilot program in three Massachusetts communities. Ordinal hierarchical logistic regression was used to identify baseline factors that correlated with physicians' report of difficulty with EHR implementation [...]

Translational informatics (TI) is extremely important for the pharmaceutical industry, especially as the bar for regulatory approval of new medications is set higher and higher. This paper will explore three specific areas in the drug development lifecycle, from tools developed by precompetitive consortia to standardized clinical data collection to the effective delivery of medications using clinical decision support, in which TI has a major role to play. Advancing TI will [...]

The authors developed a computer-based general medical history to be taken by patients in their homes over the internet before their first visit with their primary care doctor, and asked six doctors and their participating patients to assess this history and its effect on their subsequent visit. Forty patients began the history; 32 completed the history and post-history assessment questionnaire and were for the most part positive in their assessment [...]