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This content will become publicly available on February 12, 2026

Title: Secure and federated quantitative trait loci mapping with privateQTL
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.  more » « less
Award ID(s):
2247352
PAR ID:
10635929
Author(s) / Creator(s):
; ; ; ;
Publisher / Repository:
Cell Press
Date Published:
Journal Name:
Cell Genomics
Volume:
5
Issue:
2
ISSN:
2666-979X
Page Range / eLocation ID:
100769
Format(s):
Medium: X
Sponsoring Org:
National Science Foundation
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