Related papers: X-chromosome Multilocus Association Studies for Co…
Graphical causal models are an important tool for knowledge discovery because they can represent both the causal relations between variables and the multivariate probability distributions over the data. Once learned, causal graphs can be…
We investigate saddlepoint approximations applied to the score test statistic in genome-wide association studies with binary phenotypes. The inaccuracy in the normal approximation of the score test statistic increases with increasing sample…
Sleep disorders have a major impact on patients' health and quality of life, but their diagnosis remains complex due to the diversity of symptoms. Today, technological advances, combined with medical data analysis, are opening new…
Explainability of AI models is an important topic that can have a significant impact in all domains and applications from autonomous driving to healthcare. The existing approaches to explainable AI (XAI) are mainly limited to simple machine…
The problem of error analysis is addressed in stages beginning with the case of uncorrelated parameters and proceeding to the Bayesian problem that takes into account all possible correlations when a great deal of prior information about…
Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high throughput genome sequencing technologies is a central challenge faced by human geneticists today. We hypothesize that the variants…
Angular x-ray cross-correlation analysis (XCCA) is an approach to study the structure of disordered systems using the results of x-ray scattering experiments. In this paper we summarize recent theoretical developments related to the Fourier…
Constrained motion planning is a challenging field of research, aiming for computationally efficient methods that can find a collision-free path on the constraint manifolds between a given start and goal configuration. These planning…
Survival analysis stands as a pivotal process in cancer treatment research, crucial for predicting patient survival rates accurately. Recent advancements in data collection techniques have paved the way for enhancing survival predictions by…
The mainstream of research in genetics, epigenetics and imaging data analysis focuses on statistical association or exploring statistical dependence between variables. Despite their significant progresses in genetic research, understanding…
The value of research containing novel combinations of molecules can be seen in many innovative and award-winning research programs. Despite calls to use innovative approaches to address common diseases, an increasing majority of research…
Detecting anomalies in musculoskeletal radiographs is of paramount importance for large-scale screening in the radiology workflow. Supervised deep networks take for granted a large number of annotations by radiologists, which is often…
There are 512 two-locus, two-allele, two-phenotype, fully-penetrant disease models. Using the permutation between two alleles, between two loci, and between being affected and unaffected, one model can be considered to be equivalent to…
Genetic association studies, in particular the genome-wide association study design, have provided a wealth of novel insights into the aetiology of a wide range of human diseases and traits. The next challenge consists of understanding the…
Inhibiting a signalling pathway concerns controlling the cellular processes of a cancer cell's viability, cell division, and death. Assay protocols created to see if the molecular structures of the drugs being tested have the desired…
In a case-control study aimed at localizing disease variants, association between a marker and the disease status is often tested by comparing the marker allele frequencies among cases and controls. These marker allele frequencies are…
A sensitivity analysis in an observational study assesses the robustness of significant findings to unmeasured confounding. While sensitivity analyses in matched observational studies have been well addressed when there is a single outcome…
The standard paradigm for the analysis of genome-wide association studies involves carrying out association tests at both typed and imputed SNPs. These methods will not be optimal for detecting the signal of association at SNPs that are not…
Multi-modality cardiac imaging plays a key role in the management of patients with cardiovascular diseases. It allows a combination of complementary anatomical, morphological and functional information, increases diagnosis accuracy, and…
In an educational setting, an estimate of the difficulty of multiple-choice questions (MCQs), a commonly used strategy to assess learning progress, constitutes very useful information for both teachers and students. Since human assessment…