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Record W4416332355 · doi:10.7554/elife.108844

Genomic privacy risks in GWAS summary statistics

2025· article· W4416332355 on OpenAlexaff
Ao Lan, Yudi Pawitan, Xia Shen

Bibliographic record

VenueeLife · 2025
Typearticle
Language
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsCentre for Global Health Research
Fundersnot available
KeywordsConfidentialityGenome-wide association studySummary statisticsGenomic sequencingGenomicsBig dataGenomic information

Abstract

fetched live from OpenAlex

The rapid advancement in sequencing technologies has exponentially increased the availability of genomic data, heightening concerns about data privacy. Despite the perceived safety of publicly accessible genome-wide association study (GWAS) summary statistics, we demonstrate that their combination with less sensitive high-dimensional phenotype data can lead to significant leakage of confidential genomic information. By transforming a linear regression model into linear programming constraints, we scrutinize the potential for genomic data recovery using GWAS summary statistics. We found that an effective phenotype-to-sample size ratio above 0.85 could enable full genotype recovery, and that above 0.16 was sufficient to enable individual identification. Certain non-European populations are especially vulnerable. The results stress the urgent need for stronger privacy protections in genomic research while maintaining data utility.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.051
metaresearch head score (Gemma)0.226
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: Methods · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: Theoretical or conceptual
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.949
Threshold uncertainty score0.271

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0510.226
Meta-epidemiology (narrow)0.0000.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.003
Science and technology studies0.0010.004
Scholarly communication0.0050.006
Open science0.0010.004
Research integrity0.0020.004
Insufficient payload (model declined to judge)0.0020.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.022
GPT teacher head0.322
Teacher spread0.299 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

Study designTheoretical or conceptual
DomainMethods
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2025
Admission routes1
Has abstractyes

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