arXiv Machine Learning

Explaining Unsupervised Disease Staging in Huntington's Disease: Insights into Model Representations and Clusters

arXiv:2606. 07135v1 Announce Type: new Abstract: Huntington's disease (HD) is a progressive neurodegenerative disorder that affects motor, cognitive, and behavioral functions, where accurate characterization of disease progression remains essential to improve patient outcome and quality of life.

arXiv Machine Learning
Jun 5

A Machine Learning-Based Framework for Discovering Huntington's Disease Stages: Integrating Graph Representation Learning and clustering to Uncover Progression Dynamics in Longitudinal Enroll-HD Dataset

arXiv:2606. 06196v1 Announce Type: new Abstract: Huntington's disease (HD) is a progressive brain disorder that gradually affects movement, cognitive function, and behavior.

By Lubna M. Abu Zohair, Marta Vallejo, MD Azher Uddin, John R. Woodward, Hind Zantout
arXiv Machine Learning
Aug 4

xMICD: Explainable Representation of Multiple ICD Codes

arXiv:2608. 00935v1 Announce Type: new Abstract: Electronic Health Records (EHRs) are widely used for clinical risk prediction using machine learning.

By Pat Vatiwutipong, Kumkup Keeratisiwakul, Albert Phuoc Kien Van Truong, Nutcha Yodrabum, Wasin Pansiritanachot, Marvin N. Wright, Thanapon Noraset
arXiv Machine Learning
Jul 17

A Temporal Machine Learning-Based Time-to-Event Model for Predicting ALS Progression and Healthcare Utilization

arXiv:2607. 14190v1 Announce Type: new Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive and heterogeneous neurodegenerative disease in which predicting clinically meaningful milestones, such as assistive device use, remains challenging.

By Zongliang Yue, Qi Li, Terry Heiman-Patterson, Frank Bearoff, Zhaohui Qin, Huanmei Wu
arXiv Machine Learning
Sep 18

Pretrained Medical Representations for the Practical Screening of Drug Repositioning Candidates

The paper introduces a unified pre‑training framework for medical representations that incorporates hierarchical sub‑token aggregation, partial masking, and cross‑reference mechanisms to better capture the structure of medical codes. The resulting model outperforms existing BERT‑based approaches on pre‑training tasks and downstream clinical predictions, such as dementia onset and hospitalization. An in‑silico drug repositioning study for Alzheimer’s disease demonstrates the framework’s ability to rediscover known drugs and prioritize new hypotheses without external literature, establishing a workflow for hypothesis generation and prioritization based on observational data.

By Yuhei Fujioka, Daitaro Misawa, Shingo Fukuma
arXiv Computer Vision
Sep 22

DiaSeg: Diagonal Segment Extraction from DTW Paths for Interpretable Gait Analysis

DiaSeg extracts diagonal segments from Dynamic Time Warping (DTW) paths, characterizing each with five geometric features to preserve local alignment information. In a study of 91 subjects across six clinical conditions, these segments revealed consistent unsupervised patterns aligned with biomechanical phases and achieved near-perfect separation of healthy and pathological gait. While cycle‑based methods reached higher overall accuracy, DiaSeg offers phase‑specific interpretability, pinpointing where coordination breaks down within the gait cycle.

By Tresor Y. Koffi, Amel Hidouri, Corentin Legrand, Aur\'elie Bertaux
arXiv Machine Learning
Jul 14

Imputation-free transformer learning enables robust Alzheimer's disease prediction and calibrated uncertainty quantification across heterogeneous clinical cohorts

arXiv:2607. 11656v1 Announce Type: cross Abstract: Accurate diagnostic classification and disease-severity prediction for Alzheimer's disease are hampered by the incompleteness and heterogeneity of real-world clinical data.

By Christelle Schneuwly Diaz, Narmina Baghirova, Duy-Thanh Vu, Duy-Cat Can, Gilles Allali, Philippe Ryvlin, Oliver Y. Ch\'en
arXiv AI
Jun 16

Hierarchical Modeling of ICD Codes in EHR Foundation Models

arXiv:2606. 15447v1 Announce Type: new Abstract: Electronic health record foundation models typically treat ICD diagnosis codes as flat tokens, overlooking the clinically meaningful hierarchical structure that captures disease families, subcategories, and fine-grained diagnostic detail.

By Megha Thukral, Dong Gyun Kang, Rudra Pratap Singh, Shruthi Kashinath Hiremath, Katrin H\"ansel, Thomas Pl\"otz