Accounting for population structure in deep learning models for genomic analysis
While population structure may not heavily affect model performance, it is important to reduce the models' capabilities of shortcut learning when designing deep learning models for analyzing genomic datasets, by using ancestry-related variants over potentially relevant biomarkers of the disease or disorder in question. The code used to perform these analyses can be found at: https://github.com/notTrivial/populationStructure.
Authors
- Raissa Souza (ORCID: https://orcid.org/0000-0002-7455-3383)
- Nils D. Forkert (ORCID: https://orcid.org/0000-0003-2556-3224)
- Gabrielle Dagasso (ORCID: https://orcid.org/0000-0002-5037-4292)
- Matthias Wilms
Institutions
- University of Calgary (CA)
- Alberta Children's Hospital (CA)
Publication Details
- Journal
- Journal of Biomedical Informatics
- Published
- 2025-07-05
- DOI
- https://doi.org/10.1016/j.jbi.2025.104873
- Primary Topic
- Genetic Associations and Epidemiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00