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6 recordsLinked to original sources

Private detection of relatives in forensic genomics using homomorphic encryption.

BACKGROUND: Forensic analysis heavily relies on DNA analysis techniques, notably autosomal Single Nucleotide Polymorphisms (SNPs), to expedite the identification of unknown suspects through genomic database searches. However, the uniqueness of an individual's genome sequence designates it as Personal Identifiable Information (PII), subjecting it to stringent privacy regulations that can impede data access and analysis, as well as restrict the parties allowed to handle the data. Homomorphic Encryption (HE) emerges as a promising solution, enabling the execution of complex functions on encrypted data without the need for decryption. HE not only permits the processing of PII as soon as it is collected and encrypted, such as at a crime scene, but also expands the potential for data processing by multiple entities and artificial intelligence services. METHODS: This study introduces HE-based privacy-preserving methods for SNP DNA analysis, offering a means to compute kinship scores for a set of genome queries while meticulously preserving data privacy. We present three distinct approaches, including one unsupervised and two supervised methods, all of which demonstrated exceptional performance in the iDASH 2023 Track 1 competition. RESULTS: Our HE-based methods can rapidly predict 400 kinship scores from an encrypted database containing 2000 entries within seconds, capitalizing on advanced technologies like Intel AVX vector extensions, Intel HEXL, and Microsoft SEAL HE libraries. Crucially, all three methods achieve remarkable accuracy levels (ranging from 96% to 100%), as evaluated by the auROC score metric, while maintaining robust 128-bit security. These findings underscore the transformative potential of HE in both safeguarding genomic data privacy and streamlining precise DNA analysis. CONCLUSIONS: Results demonstrate that HE-based solutions can be computationally practical to protect genomic privacy during screening of candidate matches for further genealogy analysis in Forensic Genetic Genealogy (FGG).

Humans

Exchange of Veterans Affairs medical data using national and local networks.

Remote data exchange is extremely useful to a number of medical applications. It requires an infrastructure including systems, network and software tools. With such an infrastructure, existing local applications can be extended to serve national needs. There are many approaches to providing remote data exchange. Selection of an approach for an application requires balancing of various factors, including the need for rapid interactive access to data and ad hoc queries, the adequacy of access to predefined data sets, the need for an integrated view of the data, the ability to provide adequate security protection, the amount of data required, and the time frame in which data is required. The applications described here demonstrate new ways that the VA is reaping benefits from its infrastructure and its compatible integrated hospital information systems located at its facilities. The needs that have been met are also needs of private hospitals. However, in many cases the infrastructure to allow data exchange is not present. The VA's experiences may serve to establish the benefits that can be obtained by all hospitals.

CD-ROM

Disclosure of a physical disability--an informal look.

To gain some insight as to how people feel about the disclosure of a hidden physical disability to a potential employer, 821 students were queried. The results suggest that about 15 percent would disclose the disability initially, 30 percent would divulge the information only when they felt secure on the job, while 30 percent would not disclose the disability at all.

Adult

TUMORS--Oncology Registry System.

The TUMORS Oncology Registry database and functionality has been designed in cooperation with Certified Tumor Registrars and Oncologists, exceeding current American College of Surgeons requirements. The Networked Data Management System provides secure in-house registry functions with additional benefits of Central Databases for Case Consolidation, Shared Followup and Biostatistical Functions. The system used readily available Microcomputer Technologies and is developed from a Sound Background of experience in Networked, Consortium Oriented Oncology Registries. Using the latest in microcomputer LAN Compatible Database Management Systems, the system embodies the Most Recent Generation of Oncology Registry Software and is currently enjoying its first year of implementation. The demonstration includes examples of Data Entry, Query, Report and Statistical Functions operating on an IBM AT Compatible PC connected to a Laser Printer.

Databases, Factual

AskBeacon-performing genomic data exchange and analytics with natural language.

MOTIVATION: Enabling clinicians and researchers to directly interact with global genomic data resources by removing technological barriers is vital for medical genomics. AskBeacon enables large language models (LLMs) to be applied to securely shared cohorts via the Global Alliance for Genomics and Health Beacon protocol. By simply "asking" Beacon, actionable insights can be gained, analyzed, and made publication-ready. RESULTS: In the Parkinson's Progression Markers Initiative (PPMI), we use natural language to ask whether the sex-differences observed in Parkinson's disease are due to X-linked or autosomal markers. AskBeacon returns a publication-ready visualization showing that for PPMI the autosomal marker occurred 1.4 times more often in males with Parkinson's disease than females, compared to no differences for the X-linked marker. We evaluate commercial and open-weight LLM models, as well as different architectures to identify the best strategy for translating research questions to Beacon queries. AskBeacon implements extensive safety guardrails to ensure that genomic data is not exposed to the LLM directly, and that generated code for data extraction, analysis and visualization process is sanitized and hallucination resistant, so data cannot be leaked or falsified. AVAILABILITY AND IMPLEMENTATION: AskBeacon is available at https://github.com/aehrc/AskBeacon.

Genomics

Beacon Reconstruction Attack: Reconstruction of genomes in genomic data-sharing beacons using summary statistics.

MOTIVATION: Genomic data-sharing beacon protocol, developed by the Global Alliance for Genomics and Health, offers a privacy-preserving mechanism for querying genomic datasets while restricting direct data access. Despite their design, beacons remain vulnerable to privacy attacks. This study introduces a novel privacy vulnerability of the protocol: one can reconstruct large portions of the genomes of all beacon participants by only using the summary statistics reported by the protocol. RESULTS: We introduce a novel optimization-based algorithm that leverages beacon responses and SNP correlations for reconstruction. By optimizing for the SNP correlations and allele frequencies, the proposed approach achieves genome reconstruction with a substantially higher F1-score (70%) compared to baseline methods (45%) on beacons generated using individuals from the HapMap and OpenSNP datasets. We show that reconstructed genomes can be used by downstream applications such as in membership inference attacks against other beacons. Our findings reveal that beacons releasing allele frequencies substantially increase the reconstruction risk, underscoring the need for enhanced privacy-preserving mechanisms to protect genomic data. AVAILABILITY AND IMPLEMENTATION: Our implementation is available at https://github.com/ASAP-Bilkent/Beacon-Reconstruction-Attack.

Genomics