Secure and federated quantitative trait loci mapping with privateQTLShow others and affiliations
2025 (English)In: Cell Genomics, E-ISSN 2666-979X, Vol. 5, no 2, article id 100769Article in journal (Refereed) Published
Abstract [en]
Understanding the relationship between genotypes and phenotypes is crucial for advancing personalized medicine. Expression quantitative trait loci (eQTL) mapping plays a significant role by correlating genetic variants to gene expression levels. Despite the progress made by large-scale projects, eQTL mapping still faces challenges in statistical power and privacy concerns. Multi-site studies can increase sample sizes but are hindered by privacy issues. We present privateQTL, a novel framework leveraging secure multi-party computation for secure and federated eQTL mapping. When tested in a real-world scenario with data from different studies, privateQTL outperformed meta-analysis by accurately correcting for covariates and batch effect and retaining higher accuracy and precision for both eGene-eVariant mapping and effect size estimation. In addition, privateQTL is modular and scalable, making it adaptable for other molecular phenotypes and large-scale studies. Our results indicate that privateQTL is a practical solution for privacy-preserving collaborative eQTL mapping.
Place, publisher, year, edition, pages
Elsevier BV , 2025. Vol. 5, no 2, article id 100769
Keywords [en]
eQTL mapping, genomic privacy, multi-party computation, security
National Category
Computer Sciences Medical Genetics and Genomics
Identifiers
URN: urn:nbn:se:kth:diva-360185DOI: 10.1016/j.xgen.2025.100769Scopus ID: 2-s2.0-85217079966OAI: oai:DiVA.org:kth-360185DiVA, id: diva2:1938802
Note
QC 20250221
2025-02-192025-02-192025-02-21Bibliographically approved