Analyzing sex imbalance in EGA and dbGaP biological databases: Recommendations for better practices
Precision medicine aims at tailoring treatments to individual patient's characteristics. In this regard, recognizing the significance of sex and gender becomes indispensable for meeting the distinct healthcare needs of diverse populations. To this end, continuing a trend of improving data quality observed since 2014, the European Genome-phenome Archive (EGA) established a policy in 2018 that mandates data providers to declare the sex of donor samples, aiming to enhance data accuracy and prevent imbalance in sex classification. We analyzed sex classification imbalance in human data from EGA and the U.S. counterpart, the database of genotypes and phenotypes (dbGaP). Our findings show a significant decrease in samples classified as unknown in EGA, potentially promoting better sex reporting during data collection. Based on our findings, we raise awareness of sample imbalance problems and provide a list of recommendations for enhancing biomedical research practices.
Authors
- Victoria Ruiz‐Serra (ORCID: https://orcid.org/0000-0003-3991-0514)
- María José Rementeria (ORCID: https://orcid.org/0000-0002-3140-1160)
- Alfonso Valencia (ORCID: https://orcid.org/0000-0002-8937-6789)
- Mauricio Moldes (ORCID: https://orcid.org/0000-0001-5455-7769)
- Olivier Philippe (ORCID: https://orcid.org/0000-0003-3180-2025)
- Jordi Rambla (ORCID: https://orcid.org/0000-0001-9091-257X)
- Davide Cirillo (ORCID: https://orcid.org/0000-0003-4982-4716)
- Aina Jené (ORCID: https://orcid.org/0000-0001-7721-7097)
- Alejandro Muñoz Andirkó
- Nataly Buslón (ORCID: https://orcid.org/0000-0002-3722-285X)
- M. P. Morales (ORCID: https://orcid.org/0000-0002-7290-7029)
- Diego Saby (ORCID: https://orcid.org/0000-0003-3815-151X)
- Camila Pontes (ORCID: https://orcid.org/0000-0002-8726-3641)
- Àtia Cortés (ORCID: https://orcid.org/0000-0002-4394-439X)
- Gemma L. Holliday (ORCID: https://orcid.org/0000-0002-6731-6398)
Institutions
- Institució Catalana de Recerca i Estudis Avançats (ES)
- Universitat Pompeu Fabra (ES)
- Barcelona Supercomputing Center (ES)
- European Commission (BE)
- Medicines Discovery Catapult (GB)
- Ente Vasco de la Energía (ES)
- Centre for Genomic Regulation (ES)
- Universitat de Barcelona (ES)
- Universitat Politècnica de Catalunya (ES)
Publication Details
- Journal
- iScience
- Published
- 2024-09-23
- DOI
- https://doi.org/10.1016/j.isci.2024.110831
- Citations
- 2
- Primary Topic
- Sex and Gender in Healthcare
- Type
- article
- Field-Weighted Citation Impact
- 1.09
Funders
- Ministerio de Ciencia, Innovación y Universidades
- European Commission
- Barcelona Supercomputing Center
- Horizon 2020 Framework Programme