Related papers: A complete classification of epistatic two-locus m…
Genome Wide Association Studies (GWAS) and eQTL analyses have produced a large and growing number of genetic associations linked to a wide range of human phenotypes. As of 2013, there were more than 11,000 SNPs associated with a trait as…
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…
The COVID-19 pandemic has profoundly affected global health, driven by the remarkable transmissibility and mutational adaptability of the SARS-CoV-2 virus. Although five variants of concern, Alpha, Beta, Gamma, Delta, and Omicron, have been…
Epilepsy significantly impacts global health, affecting about 65 million people worldwide, along with various animal species. The diagnostic processes of epilepsy are often hindered by the transient and unpredictable nature of seizures.…
The contribution to an organism's phenotype from one genetic locus may depend upon the status of other loci. Such epistatic interactions among loci are now recognized as fundamental to shaping the process of adaptation in evolving…
The genotype-fitness map plays a fundamental role in shaping the dynamics of evolution. However, it is difficult to directly measure a fitness landscape in practice, because the number of possible genotypes is astronomical. One approach is…
Bi-factor and second-order models based on copulas are proposed for item response data, where the items can be split into non-overlapping groups such that there is a homogeneous dependence within each group. Our general models include the…
Darwinian evolution can be illustrated as an uphill walk in a landscape, where the surface consists of genotypes, the height coordinates represent fitness, and each step corresponds to a point mutation. Epistasis, roughly defined as the…
Expression quantitative trait loci (eQTL) analyses, which identify genetic markers associated with the expression of a gene, are an important tool in the understanding of diseases in human and other populations. While most eQTL studies to…
Multiple types or views of data (e.g. genetics, proteomics) measured on the same set of individuals are now popularly generated in many biomedical studies. A particular interest might be the detection of sample subgroups (e.g. subtypes of…
We continue our work on lattice models of webs, which generalise the well-known loop models to allow for various kinds of bifurcations [arXiv:2101.00282, arXiv:2107.10106]. Here we define new web models corresponding to each of the rank-two…
Epistasis refers to the phenomenon in which phenotypic consequences caused by mutation of one gene depend on one or more mutations at another gene. Epistasis is critical for understanding many genetic and evolutionary processes, including…
A widely used strategy to discover and understand language model mechanisms is circuit analysis. A circuit is a minimal subgraph of a model's computation graph that executes a specific task. We identify a gap in existing circuit discovery…
This article contributes to the search for a notion of postural style, focusing on the issue of classifying subjects in terms of how they maintain posture. Longer term, the hope is to make it possible to determine on a case by case basis…
An iterative scheme is set up for solving the loop equation of the hermitian one-matrix model with a multi-cut structure. Explicit results are presented for genus one for an arbitrary but finite number of cuts. Due to the complicated form…
We define two model structures on the category of bicomplexes concentrated in the right half plane. The first model structure has weak equivalences detected by the totalisation functor. The second model structure's weak equivalences are…
Label ambiguity is an inherent problem in real-world electrocardiogram (ECG) diagnosis, arising from overlapping conditions and diagnostic disagreement. However, current ECG models are trained under the assumption of clean and non-ambiguous…
The mapping between genotype and phenotype is encoded in the complex web of epistatic interaction between genetic loci. In this rugged fitness landscape, recombination processes, which tend to increase variation in the population, compete…
Electrophysiological observation plays a major role in epilepsy evaluation. However, human interpretation of brain signals is subjective and prone to misdiagnosis. Automating this process, especially seizure detection relying on scalp-based…
The vast majority of connections between complex disease and common genetic variants were identified through meta-analysis, a powerful approach that enables large samples sizes while protecting against common artifacts due to population…