Genomic privacy risks in GWAS summary statistics

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Abstract

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.

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