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Ultra-secure storage and analysis of genetic data for the advancement of precision medicine

Blindenbach, J.; Kang, J.; Hong, S.; Karam, C.; Lehner, T.; Gürsoy, G.

2024-04-20 bioinformatics
10.1101/2024.04.16.589793 bioRxiv
Show abstract

1Cloud computing provides the opportunity to store the ever-growing genotype-phenotype data sets needed to achieve the full potential of precision medicine. However, due to the sensitive nature of this data and the patchwork of data privacy laws across states and countries, additional security protections are proving necessary to ensure data privacy and security. Here we present SQUiD, a secure queryable database for storing and analyzing genotype-phenotype data. With SQUiD, genotype-phenotype data can be stored in a low-security, low-cost public cloud in the encrypted form, which researchers can securely query without the public cloud ever being able to decrypt the data. We demonstrate the usability of SQUiD by replicating various commonly used calculations such as polygenic risk scores, cohort creation for GWAS, MAF filtering, and patient similarity analysis both on synthetic and UK Biobank data. Our work represents a new and scalable platform enabling the realization of precision medicine without security and privacy concerns.

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