{"entity": "publication", "iuid": "1accba29e72d4bf2b6a9fb6c0fd54f20", "timestamp": "2026-08-20T20:39:14.641Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1accba29e72d4bf2b6a9fb6c0fd54f20.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1accba29e72d4bf2b6a9fb6c0fd54f20"}}, "title": "Secure and federated quantitative trait loci mapping with privateQTL.", "authors": [{"family": "Choi", "given": "Yoolim Annie", "initials": "YA"}, {"family": "Kim", "given": "Yebin", "initials": "Y"}, {"family": "Miao", "given": "Peihan", "initials": "P"}, {"family": "Lappalainen", "given": "Tuuli", "initials": "T"}, {"family": "G\u00fcrsoy", "given": "Gamze", "initials": "G"}], "type": "journal article", "published": "2025-02-12", "journal": {"title": "Cell Genom", "issn": "2666-979X", "volume": "5", "issue": "2", "pages": "100769", "issn-l": null}, "abstract": "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.", "doi": "10.1016/j.xgen.2025.100769", "pmid": "39947138", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11872535"}, {"db": "pii", "key": "S2666-979X(25)00025-4"}], "notes": [], "created": "2026-08-20T08:06:33.772Z", "modified": "2026-08-20T08:06:33.814Z"}