Unsupervised Coverage Sampling to Enhance Clinical Chart Review Coverage for Computable Phenotype Development: Simulation and Empirical Study.
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2025-11
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Abstract
Background
Developing computable phenotypes (CP) based on electronic health records (EHR) data requires "gold-standard" labels for the outcome of interest. To generate these labels, clinicians typically chart-review a subset of patient charts. Charts to be reviewed are most often randomly sampled from the larger set of patients of interest. However, random sampling may fail to capture the diversity of the patient population, particularly if smaller subpopulations exist among those with the condition of interest. This can lead to poorly performing and biased CPs.Objective
This study aimed to propose an unsupervised sampling approach designed to better capture a diverse patient cohort and improve the information coverage of chart review samples.Methods
Our coverage sampling method starts by clustering by the patient population of interest. We then perform a stratified sampling from each cluster to ensure even representation for the chart review sample. We introduce a novel metric, nearest neighbor distance, to evaluate the coverage of the generated sample. To evaluate our method, we first conducted a simulation study to model and compare the performance of random versus our proposed coverage sampling. We varied the size and number of subpopulations within the larger cohort. Finally, we apply our approach to a real-world data set to develop a CP for hospitalization due to COVID-19. We evaluate the different sampling strategies based on the information coverage as well as the performance of the learned CP, using the area under the receiver operator characteristic curve.Results
Our simulation studies show that the unsupervised coverage sampling approach provides broader coverage of patient populations compared to random sampling. When there are no underlying subpopulations, both random and coverage perform equally well for CP development. When there are subgroups, coverage sampling achieves area under the receiver operating characteristic curve gains of approximately 0.03-0.05 over random sampling. In the real-world application, the approach also outperformed random sampling, generating both a more representative sample and an area under the receiver operating characteristic curve improvement of 0.02 (95% CI -0.08 to 0.04).Conclusions
The proposed coverage sampling method is an easy-to-implement approach that produces a chart review sample that is more representative of the source population. This allows one to learn a CP that has better performance both for subpopulations and the overall cohort. Studies that aim to develop CPs should consider alternative strategies other than randomly sampling patient charts.Type
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Wang, Zigui, Jillian H Hurst, Chuan Hong and Benjamin Alan Goldstein (2025). Unsupervised Coverage Sampling to Enhance Clinical Chart Review Coverage for Computable Phenotype Development: Simulation and Empirical Study. JMIR medical informatics, 13. p. e72068. 10.2196/72068 Retrieved from https://hdl.handle.net/10161/35480.
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Zigui Wang
Jillian Hurst
Intersections of the upper respiratory microbiome, environmental exposures, and childhood respiratory infections
Early life exposure to and colonization with microbes has a profound influence on the education of the immune system and susceptibility to viral and bacterial infections later in life. My research is focused on the influence of the upper respiratory microbiome on the development of recurrent respiratory infections, including acute otitis media (AOM), the leading cause of antibiotic prescriptions and healthcare consultations among children. Importantly, some children develop recurrent infections that are thought to be linked to dysbiosis of the nasopharyngeal microbiome. My overarching goals are to identify alterations in the upper respiratory microbiome associated with AOM and to elucidate host factors and exposures that predispose some children to the development of recurrent AOM episodes.
Children's Health & Discovery Initiative:
The prenatal period, infancy, childhood, and adolescence, represent critical time periods of human development that include more developmental milestones than any other period of the lifespan. Conditions during these developmental windows – including biological, social, economic, health, and environmental factors – have a profound impact on lifelong health. The Children’s Health and Discovery Initiative (CHDI) was founded on the hypothesis that interventions early in life will improve population health across the lifespan. To this end, the overarching goal of the CHDI is to create a robust coalition of multidisciplinary investigators and a pipeline of infrastructure, data, and research projects focused on developing innovative approaches to identifying and modulating early life factors that impact lifelong health and well-being.
Chuan Hong
Chuan Hong, PhD, joins Duke as an Assistant Professor of Biostatistics effective August 1. She comes to the Duke from Harvard Medical School, where she served as an Instructor of Biomedical Informatics. Dr. Hong received her PhD degree in Biostatistics from the University of Texas Health Science Center at Houston. After that, she obtained postdoctoral trainings in Biostatistics at Harvard T. H. Chan School of Public Health from 2016 to 2018, and in Biomedical Informatics at Harvard Medical School from 2018 to 2019.
Benjamin Alan Goldstein
I study the meaningful use of Electronic Health Records data. My research interests sit at the intersection of biostatistics, biomedical informatics, machine learning and epidemiology. I collaborate with researchers both locally at Duke as well as nationally. I am interested in speaking with any students, methodologists or collaborators interested in EHR data.
Please find more information at: https://biostat.duke.edu/goldstein-lab
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