Evidence map›Paper›PMID 39947138›Full record

ArticleCell genomics2025

Secure and federated quantitative trait loci mapping with privateQTL.

Yoolim Annie Choi, Yebin Kim, Peihan Miao, Tuuli Lappalainen, Gamze Gürsoy

Abstract read
In one paragraph

Article in Cell genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Yoolim Annie ChoiColumbia University, Department of Biomedical Informatics, New York, NY, USA; New York Genome Center, New York, NY, USA.
Yebin KimNew York Genome Center, New York, NY, USA.
Peihan MiaoBrown University, Department of Computer Science, Providence, RI, USA.
Tuuli LappalainenNew York Genome Center, New York, NY, USA; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Solna, Sweden.
Gamze GürsoyColumbia University, Department of Biomedical Informatics, New York, NY, USA; New York Genome Center, New York, NY, USA; Department of Computer Science, Columbia University, New York, NY, USA. Electronic address: gamze.gursoy@columbia.edu.

Funding

Federated learning algorithms to overcome statistical and algorithmic bias and privacy concerns in machine learning for healthR01LM014380 · NLM · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI NOEMIE ELHADAD · 2024 to 2026
$1.1M
Privacy Preservation in Transcriptomic Data AnalysisR56HG013319 · NHGRI · NEW YORK GENOME CENTER · PI GURSOY, GAMZE · 2024 to 2024
$856k
Realistic quantification of potential privacy loss from genomic summary resultsR00HG010909 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GURSOY, GAMZE · 2022 to 2024
$727k
NHGRI NIH HHS R00 HG010909NHGRI NIH HHS R56 HG013319NLM NIH HHS R01 LM014380
6 · The paper itself

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.

Indexed as

Chromosome MappingQuantitative Trait LociGenotypeHumansPhenotypePolymorphism, Single NucleotideeQTL mappinggenomic privacymulti-party computationsecurity

Identifiers

PMID39947138
PMCPMC11872535

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.