arXiv subjects

Hyunghoon Cho

Publications and source records attributed to Hyunghoon Cho.

11 recordsLinked to original sources

arXiv2025

GOPHER: Optimization-based Phenotype Randomization for Genome-Wide Association Studies with Differential Privacy

Genome-wide association studies (GWAS) are an essential tool in biomedical research for identifying genetic factors linked to health and disease. However, publicly releasing GWAS summary statistics poses well-recognized privacy risks, including the potential to infer an individual's participation in the study or to reveal sensitive phenotypic information (e.g., disease status). While differential privacy (DP) offers a rigorous mathematical framework for mitigating these risks, existing DP techniques for GWAS either introduce excessive noise or restrict the release to a limited set of results. In this work, we present practical DP mechanisms for releasing the complete set of genome-wide association statistics with privacy guarantees. We demonstrate the accuracy of the privacy-preserving statistics released by our mechanisms on a range of GWAS datasets from the UK Biobank, utilizing both real and simulated phenotypes. We introduce two key techniques to overcome the limitations of prior approaches: (1) an optimization-based randomization mechanism that directly minimizes the expected error in GWAS results to enhance utility, and (2) the use of personalized priors, derived from predictive models privately trained on a subset of the dataset, to enable sample-specific optimization which further reduces the amount of noise introduced by DP. Overall, our work provides practical tools for accurately releasing comprehensive GWAS results with provable protection of study participants.

q-bio.QM↗

arXiv2025

Memorization in Large Language Models in Medicine: Prevalence, Characteristics, and Implications

Large Language Models (LLMs) have demonstrated significant potential in medicine, with many studies adapting them through continued pre-training or fine-tuning on medical data to enhance domain-specific accuracy and safety. However, a key open question remains: to what extent do LLMs memorize medical training data. Memorization can be beneficial when it enables LLMs to retain valuable medical knowledge during domain adaptation. Yet, it also raises concerns. LLMs may inadvertently reproduce sensitive clinical content (e.g., patient-specific details), and excessive memorization may reduce model generalizability, increasing risks of misdiagnosis and making unwarranted recommendations. These risks are further amplified by the generative nature of LLMs, which can not only surface memorized content but also produce overconfident, misleading outputs that may hinder clinical adoption. In this work, we present a study on memorization of LLMs in medicine, assessing its prevalence (how frequently it occurs), characteristics (what is memorized), volume (how much content is memorized), and potential downstream impacts (how memorization may affect medical applications). We systematically analyze common adaptation scenarios: (1) continued pretraining on medical corpora, (2) fine-tuning on standard medical benchmarks, and (3) fine-tuning on real-world clinical data, including over 13,000 unique inpatient records from Yale New Haven Health System. The results demonstrate that memorization is prevalent across all adaptation scenarios and significantly higher than that reported in the general domain. Moreover, memorization has distinct characteristics during continued pre-training and fine-tuning, and it is persistent: up to 87% of content memorized during continued pre-training remains after fine-tuning on new medical tasks.

cs.CL↗

arXiv2025

ByzSFL: Achieving Byzantine-Robust Secure Federated Learning with Zero-Knowledge Proofs

The advancement of AI models, especially those powered by deep learning, faces significant challenges in data-sensitive industries like healthcare and finance due to the distributed and private nature of data. Federated Learning (FL) and Secure Federated Learning (SFL) enable collaborative model training without data sharing, enhancing privacy by encrypting shared intermediate results. However, SFL currently lacks effective Byzantine robustness, a critical property that ensures model performance remains intact even when some participants act maliciously. Existing Byzantine-robust methods in FL are incompatible with SFL due to the inefficiency and limitations of encryption operations in handling complex aggregation calculations. This creates a significant gap in secure and robust model training. To address this gap, we propose ByzSFL, a novel SFL system that achieves Byzantine-robust secure aggregation with high efficiency. Our approach offloads aggregation weight calculations to individual parties and introduces a practical zero-knowledge proof (ZKP) protocol toolkit. This toolkit supports widely used operators for calculating aggregation weights, ensuring correct computations without compromising data privacy. Not only does this method maintain aggregation integrity, but it also significantly boosts computational efficiency, making ByzSFL approximately 100 times faster than existing solutions. Furthermore, our method aligns with open-source AI trends, enabling plaintext publication of the final model without additional information leakage, thereby enhancing the practicality and robustness of SFL in real-world applications.

cs.CR↗

arXiv2024

Generating Synthetic Electronic Health Record Data: a Methodological Scoping Review with Benchmarking on Phenotype Data and Open-Source Software

We conduct a scoping review of existing approaches for synthetic EHR data generation, and benchmark major methods with proposed open-source software to offer recommendations for practitioners. We search three academic databases for our scoping review. Methods are benchmarked on open-source EHR datasets, MIMIC-III/IV. Seven existing methods covering major categories and two baseline methods are implemented and compared. Evaluation metrics concern data fidelity, downstream utility, privacy protection, and computational cost. 42 studies are identified and classified into five categories. Seven open-source methods covering all categories are selected, trained on MIMIC-III, and evaluated on MIMIC-III or MIMIC-IV for transportability considerations. Among them, GAN-based methods demonstrate competitive performance in fidelity and utility on MIMIC-III; rule-based methods excel in privacy protection. Similar findings are observed on MIMIC-IV, except that GAN-based methods further outperform the baseline methods in preserving fidelity. A Python package, "SynthEHRella", is provided to integrate various choices of approaches and evaluation metrics, enabling more streamlined exploration and evaluation of multiple methods. We found that method choice is governed by the relative importance of the evaluation metrics in downstream use cases. We provide a decision tree to guide the choice among the benchmarked methods. Based on the decision tree, GAN-based methods excel when distributional shifts exist between the training and testing populations. Otherwise, CorGAN and MedGAN are most suitable for association modeling and predictive modeling, respectively. Future research should prioritize enhancing fidelity of the synthetic data while controlling privacy exposure, and comprehensive benchmarking of longitudinal or conditional generation methods.

cs.LG↗

arXiv2023

Scalable and Privacy-Preserving Federated Principal Component Analysis

Principal component analysis (PCA) is an essential algorithm for dimensionality reduction in many data science domains. We address the problem of performing a federated PCA on private data distributed among multiple data providers while ensuring data confidentiality. Our solution, SF-PCA, is an end-to-end secure system that preserves the confidentiality of both the original data and all intermediate results in a passive-adversary model with up to all-but-one colluding parties. SF-PCA jointly leverages multiparty homomorphic encryption, interactive protocols, and edge computing to efficiently interleave computations on local cleartext data with operations on collectively encrypted data. SF-PCA obtains results as accurate as non-secure centralized solutions, independently of the data distribution among the parties. It scales linearly or better with the dataset dimensions and with the number of data providers. SF-PCA is more precise than existing approaches that approximate the solution by combining local analysis results, and between 3x and 250x faster than privacy-preserving alternatives based solely on secure multiparty computation or homomorphic encryption. Our work demonstrates the practical applicability of secure and federated PCA on private distributed datasets.

cs.CR↗

arXiv2023

k-SALSA: k-anonymous synthetic averaging of retinal images via local style alignment

The application of modern machine learning to retinal image analyses offers valuable insights into a broad range of human health conditions beyond ophthalmic diseases. Additionally, data sharing is key to fully realizing the potential of machine learning models by providing a rich and diverse collection of training data. However, the personally-identifying nature of retinal images, encompassing the unique vascular structure of each individual, often prevents this data from being shared openly. While prior works have explored image de-identification strategies based on synthetic averaging of images in other domains (e.g. facial images), existing techniques face difficulty in preserving both privacy and clinical utility in retinal images, as we demonstrate in our work. We therefore introduce k-SALSA, a generative adversarial network (GAN)-based framework for synthesizing retinal fundus images that summarize a given private dataset while satisfying the privacy notion of k-anonymity. k-SALSA brings together state-of-the-art techniques for training and inverting GANs to achieve practical performance on retinal images. Furthermore, k-SALSA leverages a new technique, called local style alignment, to generate a synthetic average that maximizes the retention of fine-grain visual patterns in the source images, thus improving the clinical utility of the generated images. On two benchmark datasets of diabetic retinopathy (EyePACS and APTOS), we demonstrate our improvement upon existing methods with respect to image fidelity, classification performance, and mitigation of membership inference attacks. Our work represents a step toward broader sharing of retinal images for scientific collaboration. Code is available at https://github.com/hcholab/k-salsa.

cs.CV↗

arXiv2021

Mechanisms for Hiding Sensitive Genotypes with Information-Theoretic Privacy

Motivated by the growing availability of personal genomics services, we study an information-theoretic privacy problem that arises when sharing genomic data: a user wants to share his or her genome sequence while keeping the genotypes at certain positions hidden, which could otherwise reveal critical health-related information. A straightforward solution of erasing (masking) the chosen genotypes does not ensure privacy, because the correlation between nearby positions can leak the masked genotypes. We introduce an erasure-based privacy mechanism with perfect information-theoretic privacy, whereby the released sequence is statistically independent of the sensitive genotypes. Our mechanism can be interpreted as a locally-optimal greedy algorithm for a given processing order of sequence positions, where utility is measured by the number of positions released without erasure. We show that finding an optimal order is NP-hard in general and provide an upper bound on the optimal utility. For sequences from hidden Markov models, a standard modeling approach in genetics, we propose an efficient algorithmic implementation of our mechanism with complexity polynomial in sequence length. Moreover, we illustrate the robustness of the mechanism by bounding the privacy leakage from erroneous prior distributions. Our work is a step towards more rigorous control of privacy in genomic data sharing.

cs.IT↗

arXiv2020

Contact Tracing Mobile Apps for COVID-19: Privacy Considerations and Related Trade-offs

Contact tracing is an essential tool for public health officials and local communities to fight the spread of novel diseases, such as for the COVID-19 pandemic. The Singaporean government just released a mobile phone app, TraceTogether, that is designed to assist health officials in tracking down exposures after an infected individual is identified. However, there are important privacy implications of the existence of such tracking apps. Here, we analyze some of those implications and discuss ways of ameliorating the privacy concerns without decreasing usefulness to public health. We hope in writing this document to ensure that privacy is a central feature of conversations surrounding mobile contact tracing apps and to encourage community efforts to develop alternative effective solutions with stronger privacy protection for the users. Importantly, though we discuss potential modifications, this document is not meant as a formal research paper, but instead is a response to some of the privacy characteristics of direct contact tracing apps like TraceTogether and an early-stage Request for Comments to the community. Date written: 2020-03-24 Minor correction: 2020-03-30

cs.CR↗

arXiv2018

Large-Margin Classification in Hyperbolic Space

Representing data in hyperbolic space can effectively capture latent hierarchical relationships. With the goal of enabling accurate classification of points in hyperbolic space while respecting their hyperbolic geometry, we introduce hyperbolic SVM, a hyperbolic formulation of support vector machine classifiers, and elucidate through new theoretical work its connection to the Euclidean counterpart. We demonstrate the performance improvement of hyperbolic SVM for multi-class prediction tasks on real-world complex networks as well as simulated datasets. Our work allows analytic pipelines that take the inherent hyperbolic geometry of the data into account in an end-to-end fashion without resorting to ill-fitting tools developed for Euclidean space.

cs.LG↗

arXiv2015

Diffusion Component Analysis: Unraveling Functional Topology in Biological Networks

Complex biological systems have been successfully modeled by biochemical and genetic interaction networks, typically gathered from high-throughput (HTP) data. These networks can be used to infer functional relationships between genes or proteins. Using the intuition that the topological role of a gene in a network relates to its biological function, local or diffusion based "guilt-by-association" and graph-theoretic methods have had success in inferring gene functions. Here we seek to improve function prediction by integrating diffusion-based methods with a novel dimensionality reduction technique to overcome the incomplete and noisy nature of network data. In this paper, we introduce diffusion component analysis (DCA), a framework that plugs in a diffusion model and learns a low-dimensional vector representation of each node to encode the topological properties of a network. As a proof of concept, we demonstrate DCA's substantial improvement over state-of-the-art diffusion-based approaches in predicting protein function from molecular interaction networks. Moreover, our DCA framework can integrate multiple networks from heterogeneous sources, consisting of genomic information, biochemical experiments and other resources, to even further improve function prediction. Yet another layer of performance gain is achieved by integrating the DCA framework with support vector machines that take our node vector representations as features. Overall, our DCA framework provides a novel representation of nodes in a network that can be used as a plug-in architecture to other machine learning algorithms to decipher topological properties of and obtain novel insights into interactomes.

q-bio.MN↗

arXiv2014

High-resolution transcriptome analysis with long-read RNA sequencing

RNA sequencing (RNA-seq) enables characterization and quantification of individual transcriptomes as well as detection of patterns of allelic expression and alternative splicing. Current RNA-seq protocols depend on high-throughput short-read sequencing of cDNA. However, as ongoing advances are rapidly yielding increasing read lengths, a technical hurdle remains in identifying the degree to which differences in read length influence various transcriptome analyses. In this study, we generated two paired-end RNA-seq datasets of differing read lengths (2x75 bp and 2x262 bp) for lymphoblastoid cell line GM12878 and compared the effect of read length on transcriptome analyses, including read-mapping performance, gene and transcript quantification, and detection of allele-specific expression (ASE) and allele-specific alternative splicing (ASAS) patterns. Our results indicate that, while the current long-read protocol is considerably more expensive than short-read sequencing, there are important benefits that can only be achieved with longer read length, including lower mapping bias and reduced ambiguity in assigning reads to genomic elements, such as mRNA transcript. We show that these benefits ultimately lead to improved detection of cis-acting regulatory and splicing variation effects within individuals.

q-bio.GN↗