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Hongzhuo Chen

Publications and source records attributed to Hongzhuo Chen.

3 recordsLinked to original sources

Beyond Logit Adjustment: A Residual Decomposition Framework for Long-Tailed Reranking

Long-tailed classification, where a small number of frequent classes dominate many rare ones, remains challenging because models systematically favor frequent classes at inference time. Existing post-hoc methods such as logit adjustment address this by adding a fixed classwise offset to the base-model logits. However, the correction required to restore the relative ranking of two classes need not be constant across inputs, and a fixed offset cannot adapt to such variation. We study this problem through Bayes-optimal reranking on a base-model top-k shortlist. The gap between the optimal score and the base score, the residual correction, decomposes into a classwise component that is constant within each class, and a pairwise component that depends on the input and competing labels. When the residual is purely classwise, a fixed offset suffices to recover the Bayes-optimal ordering. We further show that when the same label pair induces incompatible ordering constraints across contexts, no fixed offset can achieve this recovery. This decomposition leads to testable predictions regarding when pairwise correction can improve performance and when cannot. We develop REPAIR (Reranking via Pairwise residual correction), a lightweight post-hoc reranker that combines a shrinkage-stabilized classwise term with a linear pairwise term driven by competition features on the shortlist. Experiments on nine benchmarks confirm that the decomposition explains where pairwise correction helps and where classwise correction alone suffices. These span text classification, visual recognition, and multimodal rare-disease diagnosis.

cs.LG

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Text

Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests, and genetic tests over a prolonged period of time, a process commonly described as the diagnostic odyssey. Addressing this odyssey has substantial clinical, psychosocial, and economic benefits. Many rare genetic diseases have distinctive facial features that artificial intelligence algorithms can use to facilitate clinical diagnosis, to prioritize candidate diseases for further laboratory or genetic testing, and to support the phenotype-driven reinterpretation of genome or exome sequencing data. Existing methods that use frontal facial photographs were built on conventional convolutional neural networks, rely exclusively on facial images, and cannot capture non-facial phenotypic traits or demographic information that are essential for accurate diagnosis. Here we introduce GestaltMML, a multimodal machine learning approach based solely on the Transformer architecture. It integrates facial images, demographic information (age, sex, ethnicity), and clinical notes (optionally a list of Human Phenotype Ontology terms) to improve prediction accuracy. We evaluate GestaltMML on 528 diseases from the GestaltMatcher Database and on several in-house and published cohorts, including Beckwith-Wiedemann syndrome, Sotos syndrome, NAA10-related neurodevelopmental syndrome, Cornelia de Lange syndrome, and KBG syndrome. GestaltMML improves on the state-of-the-art image-only ensembled model, narrows the diagnostic accuracy gap for patients from under-represented ancestries, and clarifies when multimodal fusion is beneficial and when image-only inference is preferable. The results suggest that GestaltMML can greatly narrow the candidate diagnoses of rare diseases and may facilitate the reinterpretation of sequencing data.

q-bio.QM

Autonomous Agent-Orchestrated Digital Twins (AADT): Leveraging the OpenClaw Framework for State Synchronization in Rare Genetic Disorders

Background: Medical Digital Twins (MDTs) are computational representations of individual patients that integrate clinical, genomic, and physiological data to support diagnosis, treatment planning, and outcome prediction. However, most MDTs remain static or passively updated, creating a critical synchronization gap, especially in rare genetic disorders where phenotypes, genomic interpretations, and care guidelines evolve over time. Methods: We propose an agent-orchestrated digital twin framework using OpenClaw's proactive "heartbeat" mechanism and modular Agent Skills. This Autonomous Agent-orchestrated Digital Twin (AADT) system continuously monitors local and external data streams (e.g., patient-reported phenotypes and updates in variant classification databases) and executes automated workflows for data ingestion, normalization, state updates, and trigger-based analysis. Results: A prototype implementation demonstrates that agent orchestration can continuously synchronize MDT states with both longitudinal phenotype updates and evolving genomic knowledge. In rare disease settings, this enables earlier diagnosis and more accurate modeling of disease progression. We present two case studies, including variant reinterpretation and longitudinal phenotype tracking, highlighting how AADTs support timely, auditable updates for both research and clinical care. Conclusion: The AADT framework addresses the key bottleneck of real-time synchronization in MDTs, enabling scalable and continuously updated patient models. We also discuss data security considerations and mitigation strategies through human-in-the-loop system design.

q-bio.QM