Related Experiment Video
Updated: Jun 9, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Precision phenotyping for curating research cohorts of patients with unexplained post-acute sequelae of COVID-19
Alaleh Azhir1, Jonas Hügel2, Jiazi Tian3
1Clinical Augmented Intelligence Group, Massachusetts General Hospital, Boston, MA, USA; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Insights
A new algorithm precisely identifies patients with post-acute sequelae of COVID-19 (PASC), improving accuracy and reducing bias in PASC cohort identification. This method enhances prevalence estimation and aids future PASC research.
Area of Science:
- Health Informatics
- Epidemiology
- Computational Biology
Background:
- Accurate identification of patients with post-acute sequelae of COVID-19 (PASC) is hindered by a lack of precise phenotyping algorithms.
- Existing methods result in suboptimal accuracy, demographic biases, and underestimation of PASC prevalence.
Purpose of the Study:
- To develop and validate a precision phenotyping algorithm for identifying PASC cohorts using electronic health records.
- To improve the accuracy, reduce bias, and enhance the prevalence estimation of PASC.
Main Methods:
- A retrospective case-control study utilizing longitudinal electronic health records from over 295,000 patients.
- Development of an algorithm with an attention mechanism to differentiate PASC from other conditions.
- Independent chart reviews for algorithm tuning and validation.
Main Results:
- The algorithm achieved 79.9% precision in identifying a PASC cohort of over 24,000 patients.
- Estimated PASC prevalence was 22.8%, aligning with regional national estimates.
- The algorithm demonstrated improved precision, prevalence estimation, and reduced bias compared to ICD-10-CM code U09.9.
Conclusions:
- Precision phenotyping for PASC offers superior accuracy and reduced bias in patient cohort identification.
- The developed algorithm provides a robust foundation for future research into PASC's genetic, metabolomic, and clinical aspects.
Background:
Scalable identification of patients with post-acute sequelae of COVID-19 (PASC) is challenging due to a lack of reproducible precision phenotyping algorithms, which has led to suboptimal accuracy, demographic biases, and underestimation of the PASC.
Methods:
In a retrospective case-control study, we developed a precision phenotyping algorithm for identifying cohorts of patients with PASC. We used longitudinal electronic health records data from over 295,000 patients from 14 hospitals and 20 community health centers in Massachusetts. The algorithm employs an attention mechanism to simultaneously exclude sequelae that prior conditions can explain and include infection-associated chronic conditions. We performed independent chart reviews to tune and validate the algorithm.
Findings:
The PASC phenotyping algorithm improves precision and prevalence estimation and reduces bias in identifying PASC cohorts compared to the ICD-10-CM code U09.9. The algorithm identified a cohort of over 24,000 patients with 79.9% precision. Our estimated prevalence of PASC was 22.8%, which is close to the national estimates for the region. We also provide in-depth analyses, encompassing identified lingering effects by organ, comorbidity profiles, and temporal differences in the risk of PASC.
Conclusions:
PASC precision phenotyping boasts superior precision and prevalence estimation while exhibiting less bias in identifying patients with PASC. The cohort derived from this algorithm will serve as a springboard for delving into the genetic, metabolomic, and clinical intricacies of PASC, surmounting the constraints of prior PASC cohort studies.
Funding:
This research was funded by the US National Institute of Allergy and Infectious Diseases (NIAID).
More Related Videos
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
Medical History
Acute Coronary Syndrome III: Diagnostic Studies

