Related papers: Ranking genetic factors related to age-related mac…
Today, more than 12 million people over the age of 40 suffer from ocular diseases. Most commonly, older patients are susceptible to age related macular degeneration, an eye disease that causes blurring of the central vision due to the…
We consider applying Bayesian Variable Selection Regression, or BVSR, to genome-wide association studies and similar large-scale regression problems. Currently, typical genome-wide association studies measure hundreds of thousands, or…
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,…
After the completion of human genome sequence was anounced, it is evident that interpretation of DNA sequences is an immediate task to work on. For understanding their signals, improvement of present sequence analysis tools and developing…
Machine Learning (ML) is used to tackle various tasks, such as disease classification and prediction. The effectiveness of ML models relies heavily on having large amounts of complete data. However, healthcare data is often limited or…
Kidney stones are a common and debilitating health issue, and genetic factors play a crucial role in determining susceptibility. While Genome-Wide Association Studies (GWAS) have identified numerous single nucleotide polymorphisms (SNPs)…
Single nucleotide polymorphisms (SNPs) are variations at specific locations in DNA. Sequence responsible for marking genes associated with diseases or tracking inherited diseases within The family. These variations in the Rb1 gene can cause…
The traditional activity of model selection aims at discovering a single model superior to other candidate models. In the presence of pronounced noise, however, multiple models are often found to explain the same data equally well. To…
Additionally to the extensive use in clinical medicine, biological age (BA) in legal medicine is used to assess unknown chronological age (CA) in applications where identification documents are not available. Automatic methods for age…
Age-related macular degeneration (AMD) is a major cause of blindness in older adults, severely affecting vision and quality of life. Despite advances in understanding AMD, the molecular factors driving the severity of subretinal scarring…
A well-known retinal disease that sends blurry visions to the affected patients is Macular Degeneration. This research is based on classifying the healthy and macular degeneration fundus by localizing the affected region of the fundus. A…
Genome-wide association studies (GWASs) aim to detect genetic risk factors for complex human diseases by identifying disease-associated single-nucleotide polymorphisms (SNPs). The traditional SNP-wise approach along with multiple testing…
We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing…
Cardiovascular diseases (CVD), including atherosclerosis CVD (ASCVD), are multifactorial diseases that present a major economic and social burden worldwide. Tremendous efforts have been made to understand traditional risk factors for ASCVD,…
Diagnosis and risk stratification of cancer and many other diseases require the detection of genomic breakpoints as a prerequisite of calling copy number alterations (CNA). This, however, is still challenging and requires time-consuming…
Speed-of-sound (SoS) is a biomechanical characteristic of tissue, and its imaging can provide a promising biomarker for diagnosis. Reconstructing SoS images from ultrasound acquisitions can be cast as a limited-angle computed-tomography…
In this paper, we seek a clinically-relevant latent code for representing the spectrum of macular disease. Towards this end, we construct retina-VAE, a variational autoencoder-based model that accepts a patient profile vector (pVec) as…
Accurate histopathologic interpretation is key for clinical decision-making; however, current deep learning models for digital pathology are often overconfident and poorly calibrated in out-of-distribution (OOD) settings, which limit trust…
Glaucoma is a major cause of irreversible blindness, with significant diagnostic subjectivity. This inherent uncertainty, combined with the overconfidence of models optimized solely for accuracy can lead to fatal issues such as…
Identifying genes associated with diseases is crucial to understanding disease mechanisms and developing therapies. However, identification of individual genes associated with a disease often needs to be supplemented with clustering…