Related papers: Statistical testing of shared genetic control for …
In practical domains, high-dimensional data are usually associated with diverse semantic labels, whereas traditional feature selection methods are designed for single-label data. Moreover, existing multi-label methods encounter two main…
We study the task of node classification for graph neural networks (GNNs) and establish a connection between group fairness, as measured by statistical parity and equal opportunity, and local assortativity, i.e., the tendency of linked…
Clinical and epidemiological studies encode participant information in multivariate vectors with mixed type variables on continuous, truncated, ordinal, and binary scales. Semiparametric Gaussian Copula (SGC) assumes that observed data is…
The exploration of selected single nucleotide polymorphisms (SNPs) to identify genetic diversity between different sequencing population pools (Pool-seq) is a fundamental task in genetic research. As underlying sequence reads and their…
Genome-wide epistasis analysis is a powerful tool to infer gene interactions, which can guide drug and vaccine development and lead to a deeper understanding of microbial pathogenesis. We have considered all complete SARS-CoV-2 genomes…
In genetic epidemiological studies, family history data are collected on relatives of study participants and used to estimate the age-specific risk of disease for individuals who carry a causal mutation. However, a family member's genotype…
An innovative sampling strategy is proposed, which applies to large-scale population-based surveys targeting a rare trait that is unevenly spread over a geographical area of interest. Our proposal is characterised by the ability to tailor…
Commonly in biomedical research, studies collect data in which an outcome measure contains informative excess zeros; for example when observing the burden of neuritic plaques in brain pathology studies, those who show none contribute to our…
Technological advances in genotyping have given rise to hypothesis-based association studies of increasing scope. As a result, the scientific hypotheses addressed by these studies have become more complex and more difficult to address using…
In genome-wide association studies (GWASs), there is an increasing need for detecting the associations between a genetic variant and multiple traits. In studies of complex diseases, it is common to measure several potentially correlated…
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…
Deleterious genetic variants can be evaluated as quantitative traits using information theory-based sequence analysis of recognition sites. To assess the effect of such variants, fitness and genetic load of SNPs which alter binding site…
The detection of molecular signatures of selection is one of the major concerns of modern population genetics. A widely used strategy in this context is to compare samples from several populations, and to look for genomic regions with…
Current tests for contagion in social network studies are vulnerable to the confounding effects of latent homophily (i.e., ties form preferentially between individuals with similar hidden traits). We demonstrate a general method to lower…
In this work, we show that Spearman's correlation coefficient test about $H_0:\rho_s=0$ found in most statistical software packages is theoretically incorrect and performs poorly when bivariate normality assumptions are not met or the…
A large amount of research has been devoted to the detection and investigation of epistatic interactions in genome-wide association studies (GWASs). Most of the literature focuses on low-order interactions between single-nucleotide…
Genomic regions (or loci) displaying outstanding correlation with some environmental variables are likely to be under selection and this is the rationale of recent methods of identifying selected loci and retrieving functional information…
Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases. A key step is calling an individual's genotype from the multiple aligned short read…
While progress has been made in identifying common genetic variants associated with human diseases, for most of common complex diseases, the identified genetic variants only account for a small proportion of heritability. Challenges remain…
Gene-gene interactions are often regarded as playing significant roles in influencing variabilities of complex traits. Although much research has been devoted to this area, to date a comprehensive statistical model that addresses the…