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Investigating the molecular mechanisms of symptoms is a vital task in precision medicine to refine disease taxonomy and improve the personalized management of chronic diseases. Although there are abundant experimental studies and computational efforts to obtain the candidate genes of diseases, the identification of symptom genes is rarely addressed. We curated a high-quality benchmark dataset of symptom-gene associations and proposed a heterogeneous network embedding for identifying symptom genes.

Clinical decision support (CDS) hard-stop alerts-those in which the user is either prevented from taking an action altogether or allowed to proceed only with the external override of a third party-are increasingly common but can be problematic. To understand their appropriate application, we asked 3 key questions: (1) To what extent are hard-stop alerts effective in improving patient health and healthcare delivery outcomes? (2) What are the adverse events and [...]

Over the past decade, public interest in managing health-related information for personal understanding and self-improvement has rapidly expanded. This study explored aspects of how patient-provided health information could be obtained through an electronic portal and presented to inform and engage patients while also providing information for healthcare providers.

Unintentional medication discrepancies contribute to preventable adverse drug events in patients. Patient engagement in medication safety beyond verbal participation in medication reconciliation is limited. We conducted a pilot study to determine whether patients' use of an electronic home medication review tool could improve medication safety during hospitalization.

Data derived from primary care electronic medical records (EMRs) are being used for research and surveillance. Case definitions are required to identify patients with specific conditions in EMR data with a degree of accuracy. The purpose of this study is to identify and provide a summary of case definitions that have been validated in primary care EMR data.

Electronic health record (EHR) simulation with realistic test patients has improved recognition of safety concerns in test environments. We assessed if simulation affects EHR use patterns in real clinical settings.

Medication reconciliation (MedRec) can improve patient safety by resolving medication discrepancies. Because information technology (IT) and patient engagement are promising approaches to optimizing MedRec, the SEAMPAT project aims to develop a MedRec IT platform based on two applications: the "patient app" and the "MedRec app." This study evaluates three dimensions of the usability (efficiency, satisfaction, and effectiveness) and usefulness of the patient app.

To facilitate high-quality inpatient care for stroke patients, we built a system within our electronic health record (EHR) to identify stroke patients while they are in the hospital; capture necessary data in the EHR to minimize the burden of manual abstraction for stroke performance measures, decreasing daily time requirement from 2 hours to 15 minutes; generate reports using an automated process; and electronically transmit data to third parties. Provider champions [...]

Electronic health record (EHR) algorithms for defining patient cohorts are commonly shared as free-text descriptions that require human intervention both to interpret and implement. We developed the Phenotype Execution and Modeling Architecture (PhEMA, http://projectphema.org) to author and execute standardized computable phenotype algorithms. With PhEMA, we converted an algorithm for benign prostatic hyperplasia, developed for the electronic Medical Records and Genomics network (eMERGE), into a standards-based computable format. Eight sites (7 [...]