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Updated: Jul 15, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Using a translational data platform to create clinical-grade genome-informed risk assessments
Jennifer L Morse1, Megan He1, Hana Bangash2
1Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN 37232, United States.
Objective:
To describe the development and implementation of an automated platform for genomic risk prediction that integrates multiple data types.
Materials And Methods:
Using the REDCap infrastructure, we constructed the R4 (Recruitment, Results, and Risk Reduction) platform to intake data from clinical sites, partner laboratories, participant surveys, and electronic health record (EHR) data across 13 institutions.
Results:
The R4 Portal successfully integrated data to generate genome-informed risk assessments (GIRAs) across 11 conditions for a 23 840 person cohort. Testing phases and quality control led to network-wide protocols ensuring consistency and accuracy.
Discussion:
As the science of estimating disease risk evolves, standardized and high-throughput methods of collecting and manipulating complex data are required. Platforms should be open-source, modular, and reusable, ensuring flexibility, security, and integration across healthcare environments.
Conclusion:
The electronic MEdical Records and GEnomics (eMERGE) network successfully generated and returned comprehensive risk profiles using logic and data specific to 11 conditions in a secure and semi-automated fashion employing a customized REDCap database.
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