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The Phenotype Risk Score (PheRS) is a method to detect Mendelian disease patterns using phenotypes from the electronic health record (EHR). We compared the performance of different approaches mapping EHR phenotypes to Mendelian disease features.

Artificial pancreas systems aim to reduce the burden of type 1 diabetes by automating insulin dosing. These systems link a continuous glucose monitor (CGM) and insulin pump with a control algorithm, but require users to announce meals, without which the system can only react to the rise in blood glucose.

We describe the use of an online patient portal to recruit and enroll primary care patients in a randomized trial testing the effectiveness of a colorectal cancer (CRC) screening decision support program. We use multiple logistic regression to identify patient characteristics associated with trial recruitment, enrollment, and engagement. We found that compared to Whites, Blacks had lower odds of viewing the portal message (OR = 0.46, 95% CI = 0.37-0.57), opening the attached link [...]

Effective diabetes problem solving requires identification of risk factors for inadequate mealtime self-management. Ecological momentary assessment was used to enhance identification of factors hypothesized to impact self-management. Adolescents with type 1 diabetes participated in a feasibility trial for a mobile app called MyDay. Meals, mealtime insulin, self-monitored blood glucose, and psychosocial and contextual data were obtained for 30 days. Using 1472 assessments, mixed-effects between-subjects analyses showed that social context, location [...]

Predictive analytics have begun to change the workflows of healthcare by giving insight into our future health. Deploying prognostic models into clinical workflows should change behavior and motivate interventions that affect outcomes. As users respond to model predictions, downstream characteristics of the data, including the distribution of the outcome, may change. The ever-changing nature of healthcare necessitates maintenance of prognostic models to ensure their longevity. The more effective a model [...]

Clinical prediction models require updating as performance deteriorates over time. We developed a testing procedure to select updating methods that minimizes overfitting, incorporates uncertainty associated with updating sample sizes, and is applicable to both parametric and nonparametric models.

Driven by beneficial patient-centered outcomes associated with patient portal use and the Affordable Care Act, portal implementation has expanded into safety nets-health systems that offer access to care to a large share of uninsured, Medicaid, and other vulnerable populations. However, little attention has been paid to the factors that affect portal accessibility by the vulnerable patients served by these health systems-including those who are limited English proficient (LEP).

In health informatics, there have been concerns with reuse of electronic health data for research, including potential bias from incorrect or incomplete outcome ascertainment. In this tutorial, we provide a concise review of predictive value-based quantitative bias analysis (QBA), which comprises epidemiologic methods that use estimates of data quality accuracy to quantify the bias caused by outcome misclassification.

To analyze techniques for machine translation of electronic health records (EHRs) between long distance languages, using Basque and Spanish as a reference. We studied distinct configurations of neural machine translation systems and used different methods to overcome the lack of a bilingual corpus of clinical texts or health records in Basque and Spanish.