De-black-boxing health AI: demonstrating reproducible machine learning computable phenotypes using the N3C-RECOVER Long COVID model in the All of Us data repository

Author:

Pfaff Emily R1ORCID,Girvin Andrew T2,Crosskey Miles3,Gangireddy Srushti4,Master Hiral5ORCID,Wei Wei-Qi4,Kerchberger V Eric6ORCID,Weiner Mark7ORCID,Harris Paul A4,Basford Melissa5,Lunt Chris8,Chute Christopher G9ORCID,Moffitt Richard A10,Haendel Melissa11ORCID,

Affiliation:

1. Department of Medicine, University of North Carolina at Chapel Hill School of Medicine , Chapel Hill, North Carolina, USA

2. Palantir Technologies , Denver, Colorado, USA

3. CoVar Applied Technologies , Durham, North Carolina, USA

4. Department of Biomedical Informatics, Vanderbilt University Medical Center , Nashville, Tennessee, USA

5. Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center , Nashville, Tennessee, USA

6. Department of Medicine, Division of Allergy, Pulmonary & Critical Care Medicine, Vanderbilt University Medical Center , Nashville, Tennessee, USA

7. Department of Medicine, Weill Cornell Medicine , New York, USA

8. National Institutes of Health , Bethesda, Maryland, USA

9. Johns Hopkins Schools of Medicine, Public Health, and Nursing. Baltimore , Maryland, USA

10. Departments of Hematology and Medical Oncology and Biomedical Informatics, Emory University , Atlanta, Georgia, USA

11. Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus , Denver, Colorado, USA

Abstract

Abstract Machine learning (ML)-driven computable phenotypes are among the most challenging to share and reproduce. Despite this difficulty, the urgent public health considerations around Long COVID make it especially important to ensure the rigor and reproducibility of Long COVID phenotyping algorithms such that they can be made available to a broad audience of researchers. As part of the NIH Researching COVID to Enhance Recovery (RECOVER) Initiative, researchers with the National COVID Cohort Collaborative (N3C) devised and trained an ML-based phenotype to identify patients highly probable to have Long COVID. Supported by RECOVER, N3C and NIH’s All of Us study partnered to reproduce the output of N3C’s trained model in the All of Us data enclave, demonstrating model extensibility in multiple environments. This case study in ML-based phenotype reuse illustrates how open-source software best practices and cross-site collaboration can de-black-box phenotyping algorithms, prevent unnecessary rework, and promote open science in informatics.

Funder

National Institutes of Health

Researching COVID to Enhance Recovery

CD2H—The National COVID Cohort Collaborative

Federally Qualified Health Centers

Data and Research Center

The Participant Center

Participant Technology Systems Center

Communications and Engagement

Community Partners

Publisher

Oxford University Press (OUP)

Subject

Health Informatics

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