arXiv AI

Decoding Phenotypes: A Framework for Fusing Genomic Language Models and Neuroimaging

arXiv:2608. 08926v1 Announce Type: new Abstract: Neuroimaging and genetic testing are two important clinical references for nervous system diseases, offering complementary diagnostic information.

arXiv Computer Vision
Sep 14

A Multimodal Explainable Deep Learning Framework for Alzheimer's Disease Diagnosis using 3D Magnetic Resonance Imaging and Clinical Data

The study presents an explainable multimodal deep‑learning framework that combines a 3D CNN for T1‑weighted MRI with a feedforward network for harmonized clinical and demographic data to diagnose Alzheimer’s disease. Using 6,479 ADNI records and 1,703 OASIS‑3 records, the authors compare various model configurations on three‑way and pairwise diagnostic tasks, finding that performance and explanations vary by task, modality, fusion strategy, and cohort. SHAP and Integrated Gradients consistently highlight the MMSE score as the most influential tabular feature, while CAM‑based explanations differ across model setups and cohorts, indicating that explainability is not a stable property under cohort shift.

By Yusuf Brima, Marcellin Atemkeng, Lakshmana Rao Namamula, Antoine Vacavant
arXiv Computer Vision
Sep 14

Learning Sparse Latent Predictive Foundation Model for Multimodal Neuroimaging

The paper introduces Neuro‑JEPA, a sparse multimodal foundation model that learns unified representations of brain MRI across T1w, T2w, and FLAIR sequences using a latent predictive objective and a Mixture‑of‑Experts architecture. It was pretrained on over 1.5 million scans from 428,647 studies and systematically evaluates architectural, masking, objective, and sparsity choices for robust multimodal representation learning. Across 47 tasks from three health systems and 12 public datasets, Neuro‑JEPA consistently outperforms a simple CNN baseline, demonstrating its effectiveness for both clinical and research applications.

By Haoxu Huang, Long Chen, Jingyun Chen, Jinu Hyun, James Ryan Loftus, Kara Melmed, Daniel Orringer, Jennifer Frontera, Seena Dehkharghani, Arjun Masurkar, Narges Razavian
arXiv Machine Learning
Sep 3

Enhancing brain age estimation with structural MRI and synthesized cerebral blood volume maps

The study presents a multimodal BrainAGE framework that fuses structural T1-weighted MRI with DeepCBV maps—vascular information synthesized from non‑contrast MRI—to estimate brain age more accurately. Using two separate 3D convolutional neural networks, the combined model achieved a mean absolute error of 3.95 years on cognitively normal controls, outperforming single‑modality models. Saliency analyses showed MRI highlighted white matter and cortical atrophy, while DeepCBV emphasized vascular‑rich regions, and the integrated approach revealed stronger differentiation between stable and progressive MCI, indicating sensitivity to early vascular changes.

By Jordan Jomsky, Zongyu Li, Kay C. Igwe, Yiren Zhang, Max Lashley, Tal Nuriel, Andrew Laine, Scott A. Small, Jia Guo, for the Frontotemporal Lobar Degeneration Neuroimaging Initiative, for the Alzheimer's Disease Neuroimaging Initiative
arXiv Machine Learning
Jul 7

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

arXiv:2312. 15320v3 Announce Type: replace-cross Abstract: 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.

By Da Wu, Zhanliang Wang, Hongzhuo Chen, Jingye Yang, Cong Liu, Tzung-Chien Hsieh, Elaine Marchi, Justin Blair, Peter Krawitz, Chunhua Weng, Wendy Chung, Gholson J. Lyon, Ian D. Krantz, Jennifer M. Kalish, Kai Wang
arXiv AI
Jul 17

Parameter-efficient Prompt Tuning of Vision Foundation Model With Adaptive Focal Loss for Interpretable MCI Screening

arXiv:2607. 15047v1 Announce Type: cross Abstract: Mild Cognitive Impairment is a critical early stage of cognitive decline that frequently precedes Alzheimer's disease, yet its automated detection from neuropsychological drawing tests remains fundamentally constrained by data scarcity, class imbalance, and diagnostic ambiguity near clinical boundaries.

By Javad Khoramdel, Farhad Hoseyni, Amirhossein Nikoofard
arXiv AI
Jun 17

Probing, Fusion, and Trustworthiness: A Systematic Evaluation of Foundation Model Representations for Multimodal Cancer Analysis

arXiv:2606. 17115v1 Announce Type: cross Abstract: Foundation models (FMs) have emerged as powerful representation extractors for medical data, yet their generalizability to datasets under distribution shift remains underexplored.

By Jingyu Hu, Giuseppe Tripodi, Reed Naidoo, Sarah F. McGough, Tapabrata Chakraborti