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Human genetic diseases often arise from point mutations, emphasizing the critical need for precise genome editing techniques. Among these, base editing stands out as it allows targeted alterations at the single nucleotide level. However,…
Human genetic diseases often arise from point mutations, emphasizing the critical need for precise genome editing techniques. Among these, base editing stands out as it allows targeted alterations at the single nucleotide level. However,…
Secondary contact between divergent populations or incipient species may result in the exchange and introgression of genomic material. We develop a simple DNA sequence measure, called Gmin, which is designed to identify genomic regions…
Dermatological conditions affect 1.9 billion people globally, yet accurate diagnosis remains challenging due to limited specialist availability and complex clinical presentations. Family history significantly influences skin disease…
High-throughput screening (HTS) is useful for evaluating chemicals for potential human health risks. However, given the extraordinarily large number of genes, assay endpoints, and chemicals of interest, available data are sparse, with…
Introduction: To leverage functionality and clinical relevance into understanding systems biology, one needs to understand the pathway of the genetic effects on risk factors/disease through intermediate molecular levels, such as…
Genome-Wide Association Studies are typically conducted using linear models to find genetic variants associated with common diseases. In these studies, association testing is done on a variant-by-variant basis, possibly missing out on…
Important tasks in the study of genomic data include the identification of groups of similar cells (for example by clustering), and visualisation of data summaries (for example by dimensional reduction). In this paper, we develop a novel…
Biomedical information graphs are crucial for interaction discovering of biomedical information in modern age, such as identification of multifarious molecular interactions and drug discovery, which attracts increasing interests in…
A precise assessment of the risk of breast lesions can greatly lower it and assist physicians in choosing the best course of action. To categorise breast lesions, the majority of current computer-aided systems only use characteristics from…
We seek to identify genes involved in Parkinson's Disease (PD) by combining information across different experiment types. Each experiment, taken individually, may contain too little information to distinguish some important genes from…
Polygenic risk scores can be used to model the individual genetic liability for human traits. Current methods primarily focus on modeling the mean of a phenotype neglecting the variance. However, genetic variants associated with phenotypic…
Interaction graphs provide an important qualitative modeling approach for System Biology. This paper presents a novel approach for construction of interaction graph with the help of Boolean function decomposition. Each decomposition part…
In this study, we tested the interaction effect of multimodal datasets using a novel method called the kernel method for detecting higher order interactions among biologically relevant mulit-view data. Using a semiparametric method on a…
In recent years, the field of single-cell data analysis has seen a marked advancement in the development of clustering methods. Despite advancements, most of these algorithms still concentrate on analyzing the provided single-cell matrix…
Human skeleton information is important in skeleton-based action recognition, which provides a simple and efficient way to describe human pose. However, existing skeleton-based methods focus more on the skeleton, ignoring the objects…
Standard logistic regression analysis of case-control data has low power to detect gene-environment interactions, but until recently it was the only method that could be used on complex polygenic data for which parametric distributional…
The complementary information found in different modalities of patient data can aid in more accurate modelling of a patient's disease state and a better understanding of the underlying biological processes of a disease. However, the…
Computer-aided diagnosis of skin diseases is an important tool. However, the interpretability of computer-aided diagnosis is currently poor. Dermatologists and patients cannot intuitively understand the learning and prediction process of…
During the course of evolution, an organism's genome can undergo changes that affect the large-scale structure of the genome. These changes include gene gain, loss, duplication, chromosome fusion, fission, and rearrangement. When gene gain…