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 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
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 2

Brain-Atlas-Guided Generative Counterfactual Attention for Explainable Cognitive Decline Diagnosis Using Multimodal Connectomes

arXiv:2606. 01237v1 Announce Type: new Abstract: Mild cognitive impairment (MCI) and subjective cognitive decline (SCD) are closely associated with the early Alzheimer's disease continuum, where accurate and explainable diagnosis is important for early risk assessment and intervention.

By Xiongri Shen, Jiaqi Wang, Zhenxi Song, Yi Zhong, Leilei Zhao, Xin He, Baiying Lei, Zhiguo Zhang
arXiv AI
Jun 9

NeuroAlign: Hierarchical Multimodal Fusion of Dynamic and Structural Neuroimaging for MCI Analysis

arXiv:2606. 07635v1 Announce Type: cross Abstract: Multimodal neuroimaging fusion of functional MRI (fMRI) and diffusion tensor imaging (DTI) provides complementary information for cognitive impairment analysis, but remains challenged by heterogeneous feature spaces and misaligned representations.

By Xiongri Shen, Zhenxi Song, Jiaqi wang, Yi Zhong, Leilei Zhao, Chenqi Xu, Linling Li, Yichen Wei, Lingyan Liang, Demao Deng, Luping Song, Ping Luan, Ahmed M. Anter, Shuqiang Wang, Baiying Lei, Zhiguo Zhang