Evidence map›Paper›PMID 36212774›Full record

ArticleProceedings on Privacy Enhancing Technologies. Privacy Enhancing Technologies Symposium2022

Privacy-Preserving and Efficient Verification of the Outcome in Genome-Wide Association Studies.

Anisa Halimi, Leonard Dervishi, Erman Ayday, Apostolos Pyrgelis, Juan Ramón Troncoso-Pastoriza, Jean-Pierre Hubaux, Xiaoqian Jiang, Jaideep Vaidya

Open access · hybridAbstract read
In one paragraph

Article in Proceedings on Privacy Enhancing Technologies. Privacy Enhancing Technologies Symposium, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.9field-weighted citation impact, top 12% of its field
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

14 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. PROVGEN: A Privacy-Preserving Approach for Outcome Validation in Genomic Research.Proceedings on Privacy Enhancing Technologies. Privacy Enhancing Technologies Symposium · 2026
    Article
  3. Article
  4. Safeguarding Privacy in Genome Research: A Comprehensive Framework for Authors.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2025
    Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Privacy-Preserving Fingerprinting Against Collusion and Correlation Threats in Genomic Data.Proceedings on Privacy Enhancing Technologies. Privacy Enhancing Technologies Symposium · 2024
    Article
  10. Ensuring Trust in Genomics Research.... IEEE International Conference on Trust, Privacy and Security in Intelligent Systems and Applications : (TPS-ISA ...). IEEE International Conference on Trust, Privacy and Security in Intelligent Systems and Applications · 2023
    Article
  11. Article
  12. Article
  13. Robust fingerprinting of genomic databases.Bioinformatics (Oxford, England) · 2022
    Article
  14. 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

8 authors at 3 institutions in 3 countries.

Anisa HalimiIBM Research Europe - Dublin.
Leonard DervishiCase Western Reserve University.
Erman AydayCase Western Reserve University.
Apostolos PyrgelisEPFL.
Juan Ramón Troncoso-PastorizaEPFL.
Jean-Pierre HubauxEPFL.
Xiaoqian JiangUniversity of Texas, Health Science Center.
Jaideep VaidyaRutgers University.
Case Western Reserve University · USIBM Research - Ireland · IERutgers Sexual and Reproductive Health and Rights · NL

Funding

Open Health Natural Language Processing CollaboratoryU01TR002062 · NCATS · MAYO CLINIC ROCHESTER · PI JIANG, XIAOQIAN, LIU, HONGFANG · 2017 to 2021
$7.6M
Finding Combinatorial Drug Repositioning Therapy For Alzheimer'S Disease And Related DementiasR01AG066749 · NIA · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI JIANG, XIAOQIAN, ZHENG, WENJIN JIM · 2020 to 2024
$4.4M
Supplement for high performance compute clustersR35GM134927 · NIGMS · RUTGERS THE STATE UNIV OF NJ NEWARK · PI VAIDYA, JAIDEEP · 2020 to 2024
$2.1M
Privacy Challenges of Genomic Data-Sharing Beacons and SolutionsR01LM013429 · NLM · CASE WESTERN RESERVE UNIVERSITY · PI AYDAY, ERMAN · 2020 to 2023
$1.2M
NCATS NIH HHS U01 TR002062NIA NIH HHS R01 AG066749NIGMS NIH HHS R35 GM134927NLM NIH HHS R01 LM013429
6 · The paper itself

Abstract

Providing provenance in scientific workflows is essential for reproducibility and auditability purposes. In this work, we propose a framework that verifies the correctness of the aggregate statistics obtained as a result of a genome-wide association study (GWAS) conducted by a researcher while protecting individuals' privacy in the researcher's dataset. In GWAS, the goal of the researcher is to identify highly associated point mutations (variants) with a given phenotype. The researcher publishes the workflow of the conducted study, its output, and associated metadata. They keep the research dataset private while providing, as part of the metadata, a partial noisy dataset (that achieves local differential privacy). To check the correctness of the workflow output, a verifier makes use of the workflow, its metadata, and results of another GWAS (conducted using publicly available datasets) to distinguish between correct statistics and incorrect ones. For evaluation, we use real genomic data and show that the correctness of the workflow output can be verified with high accuracy even when the aggregate statistics of a small number of variants are provided. We also quantify the privacy leakage due to the provided workflow and its associated metadata and show that the additional privacy risk due to the provided metadata does not increase the existing privacy risk due to sharing of the research results. Thus, our results show that the workflow output (i.e., research results) can be verified with high confidence in a privacy-preserving way. We believe that this work will be a valuable step towards providing provenance in a privacy-preserving way while providing guarantees to the users about the correctness of the results.

Indexed as

genome-wide association studiesPrivacyprovenanceverifiable computationworkflows

Identifiers

PMID36212774
PMCPMC9536480
OpenAlexW3123173628

What OpenQuestion holds

Textmetadata
LicenceTDM
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.