Related papers: Advancing Risk Gene Discovery Across the Allele Fr…
It is becoming routine to obtain datasets on DNA sequence variation across several thousands of chromosomes, providing unprecedented opportunity to infer the underlying biological and demographic forces. Such data make it vital to study…
We consider a general branching population where the lifetimes of individuals are i.i.d.\ with arbitrary distribution and where each individual gives birth to new individuals at Poisson times independently from each other. In addition, we…
Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…
Frequency-domain analysis has emerged as a powerful paradigm for time series analysis, offering unique advantages over traditional time-domain approaches while introducing new theoretical and practical challenges. This survey provides a…
Many common diseases are highly polygenic, modulated by a large number genetic factors with small effects on susceptibility to disease. These small effects are difficult to map reliably in genetic association studies. To address this…
The biological roles of gene sets are used to group them into collections. These collections are often characterized by being high-dimensional, overlapping, and redundant families of sets, thus precluding a straightforward interpretation…
Anomaly detection is a classical problem where the aim is to detect anomalous data that do not belong to the normal data distribution. Current state-of-the-art methods for anomaly detection on complex high-dimensional data are based on the…
A major challenge in biomedical data science is to identify the causal genes underlying complex genetic diseases. Despite the massive influx of genome sequencing data, identifying disease-relevant genes remains difficult as individuals with…
This work proposes a unified framework to leverage biological information in network propagation-based gene prioritization algorithms. Preliminary results on breast cancer data show significant improvements over state-of-the-art baselines,…
Identifying the mutations that drive cancer growth is key in clinical decision making and precision oncology. As driver mutations confer selective advantage and thus have an increased likelihood of occurrence, frequency-based statistical…
We study a sequential decision-making problem on a $n$-node graph $\mathcal{G}$ where each node has an unknown label from a finite set $\mathbf{\Omega}$, drawn from a joint distribution $\mathcal{P}$ that is Markov with respect to…
When an individual's DNA is sequenced, sensitive medical information becomes available to the sequencing laboratory. A recently proposed way to hide an individual's genetic information is to mix in DNA samples of other individuals. We…
This research addresses the challenge of developing a universal deepfake detector that can effectively identify unseen deepfake images despite limited training data. Existing frequency-based paradigms have relied on frequency-level…
Anomaly detection is the process of finding data points that deviate from a baseline. In a real-life setting, anomalies are usually unknown or extremely rare. Moreover, the detection must be accomplished in a timely manner or the risk of…
The analysis of risk typically involves dividing a random damage-generation process into separate frequency (event-count) and severity (damage-magnitude) components. In the present article, we construct canonical families of mixture…
Deep learning has achieved remarkable success in medical image classification. However, its clinical application is often hindered by data heterogeneity caused by variations in scanner vendors, imaging protocols, and operators. Approaches…
Genetic risk prediction is an important component of individualized medicine, but prediction accuracies remain low for many complex diseases. A fundamental limitation is the sample sizes of the studies on which the prediction algorithms are…
Health risk prediction is one of the fundamental tasks under predictive modeling in the medical domain, which aims to forecast the potential health risks that patients may face in the future using their historical Electronic Health Records…
The rapid expansion of data from diverse sources has made anomaly detection (AD) increasingly essential for identifying unexpected observations that may signal system failures, security breaches, or fraud. As datasets become more complex…
Antimicrobial resistance is an emerging global health crisis that is undermining advances in modern medicine and, if unmitigated, threatens to kill 10 million people per year worldwide by 2050. Research over the last decade has demonstrated…