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The phenome-wide association study (PheWAS) systematically examines the phenotypic spectrum extracted from electronic health records (EHRs) to uncover correlations between phenotypes and exposures. This review explores methodologies, highlights challenges, and outlines future directions for EHR-driven PheWAS.

The predictive intensive care unit (ICU) scoring system is crucial for predicting patient outcomes, particularly mortality. Traditional scoring systems rely mainly on structured clinical data from electronic health records, which can overlook important clinical information in narratives and images.

Demonstrate a methodology for improving discoverability of rare disease datasets by enriching source data with biological associations.

Dimensionality reduction techniques aim to enhance the performance of machine learning (ML) models by reducing noise and mitigating overfitting. We sought to compare the effect of different dimensionality reduction methods for comorbidity features extracted from electronic health records (EHRs) on the performance of ML models for predicting the development of various sub-phenotypes in children with Neurofibromatosis type 1 (NF1).

To evaluate large language models (LLMs) for pre-test diagnostic probability estimation and compare their uncertainty estimation performance with a traditional machine learning classifier.

Measurement of health-related social needs (HRSNs) is complex. We sought to develop and validate computable phenotypes (CPs) using structured electronic health record (EHR) data for food insecurity, housing instability, financial insecurity, transportation barriers, and a composite-type measure of these, using human-defined rule-based and machine learning (ML) classifier approaches.

Extracorporeal membrane oxygenation (ECMO) is among the most resource-intensive therapies in critical care. The COVID-19 pandemic highlighted the lack of ECMO resource allocation tools. We aimed to develop a continuous ECMO risk prediction model to enhance patient triage and resource allocation.

To pilot a digital health technologies ecosystem known as project SingaporeWALK (Wearables and Apps for Community Living and Knowledge) that build capacity in older adults, senior center managers, health coaches, and caregivers in using health technologies (eg, wearables, apps, exergames) collaboratively in a gamified way for active aging.

There is no guidance to support the reporting of systematic reviews of mobile health (mhealth) apps (app reviews), so authors attempt to use/modify the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). There is a need for reporting guidance, building on PRISMA where appropriate, tailored to app reviews. The objectives were to describe the reporting quality of published mHealth app reviews, identify the need for, and develop potential candidate [...]

The National Library of Medicine (NLM) currently indexes close to a million articles each year pertaining to more than 5300 medicine and life sciences journals. Of these, a significant number of articles contain critical information about the structure, genetics, and function of genes and proteins in normal and disease states. These articles are identified by the NLM curators, and a manual link is created between these articles and the corresponding [...]