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Updated: Jul 15, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Dynamic feature splicing for few-shot rare disease diagnosis
Yuanyuan Chen1, Xiaoqing Guo2, Yongsheng Pan1
1National Engineering Laboratory for Integrated Aero-Space-Ground-Ocean Big Data Application Technology, School of Computer Science and Engineering, Northwestern Polytechnical University, Xi'an 710072, China.
Identifying rare diseases with few-shot learning (FSL) is challenging. This study introduces a dynamic feature splicing (DNFS) framework to improve few-shot rare disease diagnosis by enriching features from limited data.
Area of Science:
- Medical Imaging
- Machine Learning
- Computer Vision
Background:
- Acquiring annotated medical images for rare disease diagnosis is difficult.
- Few-shot learning (FSL) aims to identify rare diseases with limited data.
- Existing FSL methods struggle with complex medical image characteristics and high intra-class variance.
Purpose of the Study:
- To propose a novel dynamic feature splicing (DNFS) framework for few-shot rare disease diagnosis.
- To enhance both low-level and high-level features of rare disease classes using knowledge from abundant base classes.
- To improve the accuracy and performance of rare disease diagnosis in a few-shot setting.
Main Methods:
- Developed a dynamic feature splicing (DNFS) framework incorporating position coherent (P-DNFS) and semantic coherent (S-DNFS) modules.
- P-DNFS utilizes a lesion-oriented Transformer to detect lesion regions for low-level feature splicing.
- S-DNFS explores cross-image channel relations for high-level feature splicing based on semantic consistency.
Main Results:
- The DNFS framework dynamically and iteratively enriches both low-level and high-level features.
- Generated abundant spliced features, leading to a more accurate decision boundary.
- Demonstrated superior performance compared to state-of-the-art approaches on three medical image classification datasets.
Conclusions:
- The proposed DNFS framework effectively addresses the challenges of few-shot rare disease diagnosis.
- Dynamic feature splicing significantly improves diagnostic accuracy by leveraging knowledge from base classes.
- DNFS offers a promising approach for rare disease identification in resource-limited scenarios.
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