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With recent breakthroughs in high-throughput sequencing, identifying deleterious mutations is one of the key challenges for personalized medicine. At the gene and protein level, it has proven difficult to determine the impact of previously unknown variants. A statistical method has been developed to assess the significance of disease mutation clusters on protein domains by incorporating domain functional annotations to assist in the functional characterization of novel variants.

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 [...]

The performance of a classification system depends on the context in which it will be used, including the prevalence of the classes and the relative costs of different types of errors. Metrics such as accuracy are limited to the context in which the experiment was originally carried out, and metrics such as sensitivity, specificity, and receiver operating characteristic area--while independent of prevalence--do not provide a clear picture of the performance [...]

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 [...]

To identify and evaluate the effectiveness, clinical usefulness, sustainability, and usability of web-compatible diabetes-related tools.

To develop and evaluate a text mining system for extracting key clinical features from vaccine adverse event reporting system (VAERS) narratives to aid in the automated review of adverse event reports.

Residual clinical samples represent a very appealing source of biomaterial for translational and clinical research. We describe the implementation of an opt-in biobank, with consent being obtained at the time of registration and the decision stored in our electronic health record, Epic. Information on that decision, along with laboratory data, is transferred to an application that signals to biobank staff whether a given sample can be kept for research. Investigators [...]