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Abstract ObjectivesTo verify that federated genomic study sites applied identical preprocessing pipelines without disclosing raw genotypes. Materials and MethodsEach institution perturbs a 100-SNP slice using local differential privacy (LDP), trains a RandomForest classifier, and transmits one LIME explanation vector to a coordinating server. The server simulates 15 preprocessing combinations and trains a RandomForest classifier to predict each site’s configuration. ResultsIn centralized simulation, the verifier achieved 80% accuracy across 15 preprocessing configurations on the GMMAT (n = 400) and synthetic genome (n = 2504) datasets while maintaining membership-inference attack power below 0.05 at ε = 3. In distributed Flower FL experiments with data partitioned across three sites, binary compatibility detection reached 70% accuracy at 500 SNPs. DiscussionA single differentially private explanation vector provides an auditable preprocessing fingerprint. The gap between centralized and distributed accuracy reflects expected FL data partitioning effects. ConclusionThis framework demonstrates the feasibility of automated preprocessing verification in federated genomic consortia without compromising participant privacy. 

Abstract MotivationGenome-wide association studies (GWAS) benefit from the increasing availability of genomic data and cross-institution collaborations. However, sharing data across institutional boundaries jeopardizes medical data confidentiality and patient privacy. While modern cryptographic techniques provide formal secure guarantees, the substantial communication and computational overheads hinder the practical application of large-scale collaborative GWAS. ResultsThis work introduces an efficient framework for conducting collaborative GWAS on distributed datasets, maintaining data privacy without compromising the accuracy of the results. We propose a novel two-step strategy aimed at reducing communication and computational overheads, and we employ iterative and sampling techniques to ensure accurate results. We instantiate our approach using logistic regression, a commonly used statistical method for identifying associations between genetic markers and the phenotype of interest. We evaluate our proposed methods using two real genomic datasets and demonstrate their robustness in the presence of between-study heterogeneity and skewed phenotype distributions using a variety of experimental settings. The empirical results show the efficiency and applicability of the proposed method and the promise for its application for large-scale collaborative GWAS. Availability and implementationThe source code and data are available at https://github.com/amioamo/TDS.