Related papers: Large-scale machine learning-based phenotyping sig…

Optical coherence tomography (OCT) based measurements of retinal layer thickness, such as the retinal nerve fibre layer (RNFL) and the ganglion cell with inner plexiform layer (GCIPL) are commonly used for the diagnosis and monitoring of…

Identifying disease-associated genes enables the development of precision medicine and the understanding of biological processes. Genome-wide association studies (GWAS), gene expression data, biological pathway analysis, and protein network…

Although unprecedented sensitivity and specificity values are reported, recent glaucoma detection deep learning models lack in decision transparency. Here, we propose a methodology that advances explainable deep learning in the field of…

Automated optic disc (OD) and optic cup (OC) segmentation in fundus images is relevant to efficiently measure the vertical cup-to-disc ratio (vCDR), a biomarker commonly used in ophthalmology to determine the degree of glaucomatous optic…

Automated Computer Aided diagnostic tools can be used for the early detection of glaucoma to prevent irreversible vision loss. In this work, we present a Multi-task Convolutional Neural Network (CNN) that jointly segments the Optic Disc…

One of the leading causes of blindness is glaucoma, which is challenging to detect since it remains asymptomatic until the symptoms are severe. Thus, diagnosis is usually possible until the markers are easy to identify, i.e., the damage has…

Glioblastoma (GBM) is one of the most aggressive and lethal human cancers. Intra-tumoral genetic heterogeneity poses a significant challenge for treatment. Biopsy is invasive, which motivates the development of non-invasive, MRI-based…

Imaging genetic studies aim to find associations between genetic variants and imaging quantitative traits. Traditional genome-wide association studies (GWAS) are based on univariate statistical tests, but when multiple traits are analyzed…

Automatic evaluation of the retinal fundus image is emerging as one of the most important tools for early detection and treatment of progressive eye diseases like Glaucoma. Glaucoma results to a progressive degeneration of vision and is…

Confocal Laser Endomicroscope (CLE) is a novel handheld fluorescence imaging device that has shown promise for rapid intraoperative diagnosis of brain tumor tissue. Currently CLE is capable of image display only and lacks an automatic…

Predicting outcomes, such as survival or metastasis for individual cancer patients is a crucial component of precision oncology. Machine learning (ML) offers a promising way to exploit rich multi-modal data, including clinical information…

Genome-wide association studies (GWAS) offer new opportunities to identify genetic risk factors for Alzheimer's disease (AD). Recently, collaborative efforts across different institutions emerged that enhance the power of many existing…

The isocitrate dehydrogenase (IDH) gene mutation is an essential biomarker for the diagnosis and prognosis of glioma. It is promising to better predict glioma genotype by integrating focal tumor image and geometric features with brain…

Computer vision-based methods have valuable use cases in precision medicine, and recognizing facial phenotypes of genetic disorders is one of them. Many genetic disorders are known to affect faces' visual appearance and geometry. Automated…

Background/Aims: Standard Automated Perimetry (SAP) is the gold standard to monitor visual field (VF) loss in glaucoma management, but is prone to intra-subject variability. We developed and validated a deep learning (DL) regression model…

We describe a new approach to automated Glaucoma detection in 3D Spectral Domain Optical Coherence Tomography (OCT) optic nerve scans. First, we gathered a unique and diverse multi-ethnic dataset of OCT scans consisting of glaucoma and…

With the advancements in medical artificial intelligence (AI), fundus image classifiers are increasingly being applied to assist in ophthalmic diagnosis. While existing classification models have achieved high accuracy on specific fundus…

Investigating the genetic architecture of complex diseases is challenging due to the multifactorial and interactive landscape of genomic and environmental influences. Although genome-wide association studies (GWAS) have identified thousands…

Purpose: (1) To develop a deep learning algorithm to automatically segment structures of the optic nerve head (ONH) and macula in 3D wide-field optical coherence tomography (OCT) scans; (2) To assess whether 3D macula or ONH structures (or…

Genome-Wide Association Studies (GWAS) help identify genetic variations in people with diseases such as Parkinson's disease (PD), which are less common in those without the disease. Thus, GWAS data can be used to identify genetic variations…