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Biomedical subjects

Yatish Jain

Publications and source records attributed to Yatish Jain.

2 recordsLinked to original sources

Privacy-hardened and hallucination-resistant synthetic data generation with logic-solvers.

MOTIVATION: Machine-generated or synthetic data is a valuable resource for training artificial intelligence algorithms, evaluating rare workflows, and sharing data under stricter data legislations. However, current statistical and deep learning methods struggle with large data volumes, are prone to hallucinating scenarios incompatible with reality, and seldom quantify privacy meaningfully. RESULTS: Here, we introduce Genomator, a logic solving approach (SAT solving), which efficiently produces private and realistic representations of the original data. We demonstrate the method on genomic data, which arguably is the most complex and private information. We benchmark Genomator against state-of-the-art methodologies (Markov generation, Wasserstein Generative Adversarial Network and Conditional Restricted Boltzmann Machines), demonstrating a 40%-530% accuracy improvement and 57%-172% higher privacy. Genomator is also 3-100 times more efficient, making it the only tested method that scales to whole genomes. We show the universal trade-off between privacy and accuracy, and use Genomator's tuning capability to cater to all applications along the spectrum, from provable private representations of sensitive cohorts, to datasets with indistinguishable pharmacogenomic profiles. Demonstrating the production-scale generation of tuneable synthetic genomes hold great potential for balancing underrepresented populations in medical research and advancing global data exchange. AVAILABILITY AND IMPLEMENTATION: Genomator is available at https://github.com/csiro/genomator.

Algorithms↗

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↗