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One of the major developments in recent years in the search for missing heritability of human phenotypes is the adoption of linear mixed-effects models (LMMs) to estimate heritability due to genetic variants which are not significantly…
In recent years, there has been significant development in the analysis of medical data using machine learning. It is believed that the onset of Age-related Macular Degeneration (AMD) is associated with genetic polymorphisms. However,…
Nowadays, glaucoma is the leading cause of blindness worldwide. We propose in this paper two different deep-learning-based approaches to address glaucoma detection just from raw circumpapillary OCT images. The first one is based on the…
Glaucoma leads to permanent vision disability by damaging the optical nerve that transmits visual images to the brain. The fact that glaucoma does not show any symptoms as it progresses and cannot be stopped at the later stages, makes it…
This investigation reports on the results of convolutional neural networks developed for the recently introduced PathologicAL Myopia (PALM) dataset, which consists of 1200 fundus images. We propose a new Optic Nerve Head (ONH)-based…
Multi-modal neuroimaging technology has greatlly facilitated the efficiency and diagnosis accuracy, which provides complementary information in discovering objective disease biomarkers. Conventional deep learning methods, e.g. convolutional…
Biomarker identification is critical for precise disease diagnosis and understanding disease pathogenesis in omics data analysis, like using fold change and regression analysis. Graph neural networks (GNNs) have been the dominant deep…
Diabetes is a major health problem in both developing and developed countries and its incidence is rising dramatically. In this study, we investigate a novel automatic approach to diagnose Diabetes disease based on Feature Weighted Support…
Large language models (LLMs) can simulate clinical reasoning based on natural language prompts, but their utility in ophthalmology is largely unexplored. This study evaluated GPT-4's ability to interpret structured textual descriptions of…
The 7-point checklist (7PCL) is a widely used diagnostic tool in dermoscopy for identifying malignant melanoma by assigning point values to seven specific attributes. However, the traditional 7PCL is limited to distinguishing between…
Recently, Graph Convolutional Networks (GCNs) have proven to be a powerful mean for Computer Aided Diagnosis (CADx). This approach requires building a population graph to aggregate structural information, where the graph adjacency matrix…
In recent years, deep learning models have been applied to neuroimaging data for early diagnosis of Alzheimer's disease (AD). Structural magnetic resonance imaging (sMRI) and positron emission tomography (PET) images provide structural and…
A major cause of irreversible visual impairment is angle-closure glaucoma, which can be screened through imagery from Anterior Segment Optical Coherence Tomography (AS-OCT). Previous computational diagnostic techniques address this…
Multimodal large language models (MLLMs) hold promise for integrating diverse data modalities, but current medical adaptations such as LLaVA-Med often fail to fully exploit the synergy between color fundus photography (CFP) and optical…
The past decade has seen a rapid growth in omics technologies. Genome-wide association studies (GWAS) have uncovered susceptibility variants for a variety of complex traits. However, the functional significance of most discovered variants…
Transcriptome-wide association studies (TWAS) link genetic variation to complex traits by leveraging expression quantitative trait loci (eQTL) data. However, most implementations are typically limited to local (cis-acting) effects and fail…
Identifying variants that carry substantial information on the trait of interest remains a core topic in genetic studies. In analyzing the EADB-UKBB dataset to identify genetic variants associated with Alzheimer's disease (AD), however, we…
Precis: A hybrid deep-learning model combines NFL reflectance and other OCT parameters to improve glaucoma diagnosis. Objective: To investigate if a deep learning model could be used to combine nerve fiber layer (NFL) reflectance and other…
Gliomas are the most common primary tumors of the central nervous system. Multimodal MRI is widely used for the preliminary screening of gliomas and plays a crucial role in auxiliary diagnosis, therapeutic efficacy, and prognostic…
Tumor heterogeneity is a challenge to designing effective and targeted therapies. Glioma-type identification depends on specific molecular and histological features, which are defined by the official WHO classification CNS. These guidelines…