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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…

adap-org · Physics 2009-11-09 Wentian Li , Jens Reich

Rapid research progress in genotyping techniques have allowed large genome-wide association studies. Existing methods often focus on determining associations between single loci and a specific phenotype. However, a particular phenotype is…

Applications · Statistics 2010-06-28 Anna-Sapfo Malaspinas , Caroline Uhler

In statistical genetics an important task involves building predictive models for the genotype-phenotype relationships and thus attribute a proportion of the total phenotypic variance to the variation in genotypes. Numerous models have been…

Applications · Statistics 2016-03-30 Deniz Akdemir , Jean-Luc Jannink

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…

Quantitative Methods · Quantitative Biology 2022-05-18 Hong-Li Zeng , Vito Dichio , Edwin Rodríguez Horta , Kaisa Thorell , Erik Aurell

Recombinant Inbred Lines derived from divergent parental lines can display extensive segregation distortion and long-range linkage disequilibrium (LD) between distant loci. These genomic signatures are consistent with epistatic selection…

Applications · Statistics 2018-01-03 P. Behrouzi , E. C. Wit

The evolutionary effect of recombination depends crucially on the epistatic interactions between linked loci. A paradigmatic case where recombination is known to be strongly disadvantageous is a two-locus fitness landscape dis- playing…

Populations and Evolution · Quantitative Biology 2012-02-13 Su-Chan Park , Joachim Krug

Epilepsy is one of the most common neurological disorders that can be diagnosed through electroencephalogram (EEG), in which the following epileptic events can be observed: pre-ictal, ictal, post-ictal, and interictal. In this paper, we…

Machine Learning · Computer Science 2021-02-12 Jefferson Tales Oliva , João Luís Garcia Rosa

2 Diabetes is a leading worldwide public health concern, and its increasing prevalence has significant health and economic importance in all nations. The condition is a multifactorial disorder with a complex aetiology. The genetic…

Machine Learning · Computer Science 2018-08-30 Basma Abdulaimma , Paul Fergus , Carl Chalmers

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…

We investigate a statistical model for multidimensional epistasis. The genotype is devided into subsequences, and within each subsequence mutations which occur in a prescribed order are beneficial. The bit-string model used to represent the…

Biological Physics · Physics 2007-05-23 G. Soyler , A. Erzan

The relationship between the shape of a fitness landscape and the underlying gene interactions, or epistasis, has been extensively studied in the two-locus case. Gene interactions among multiple loci are usually reduced to two-way…

Populations and Evolution · Quantitative Biology 2007-05-23 Niko Beerenwinkel , Lior Pachter , Bernd Sturmfels

We show that higher order epistasis has a substantial impact on evolutionary dynamics by analyzing peaks in the fitness landscapes. There are 193,270,310 fitness graphs, or cube orientations, for 4-locus systems, distributed on 511, 863…

Quantitative Methods · Quantitative Biology 2017-08-08 Kristina Crona , Mengming Luo

To date, most genetic analyses of phenotypes have focused on analyzing single traits or, analyzing each phenotype independently. However, joint epistasis analysis of multiple complementary traits will increase statistical power, and hold…

Genomics · Quantitative Biology 2015-12-04 Futao Zhang , Dan Xie , Meimei Liang , Momiao Xiong

Biochemical and regulatory interactions central to biological networks are expected to cause extensive genetic interactions or epistasis affecting the heritability of complex traits and the distribution of genotypes in populations. However,…

Populations and Evolution · Quantitative Biology 2009-12-15 Richard A. Neher , Boris I. Shraiman

Epistasis is a phenomenon in which a phenotype outcome is determined by the interaction of genetic variation at two or more loci and it cannot be attributed to the additive combination of effects corresponding to the individual loci.…

Distributed, Parallel, and Cluster Computing · Computer Science 2022-03-03 Christian Ponte-Fernández , Jorge González-Domínguez , María J. Martín

We use Direct Coupling Analysis (DCA) to determine epistatic interactions between loci of variability of the SARS-CoV-2 virus, segmenting genomes by month of sampling. We use full-length, high-quality genomes from the GISAID repository up…

Genomics · Quantitative Biology 2022-06-07 Hong-Li Zeng , Yue Liu , Vito Dichio , Erik Aurell

Genetic interactions can strongly influence the fitness effects of individual mutations, yet the impact of these epistatic interactions on evolutionary dynamics remains poorly understood. Here we investigate the evolutionary role of…

Populations and Evolution · Quantitative Biology 2014-11-14 Benjamin H. Good , Michael M. Desai

We introduce a data-driven epistatic model of protein evolution, capable of generating evolutionary trajectories spanning very different time scales reaching from individual mutations to diverged homologs. Our in silico evolution…

Biomolecules · Quantitative Biology 2024-09-30 Leonardo Di Bari , Matteo Bisardi , Sabrina Cotogno , Martin Weigt , Francesco Zamponi

Dominance is usually considered a constant value that describes the relative difference in fitness or phenotype between heterozygotes and the average of homozygotes at a focal polymorphic locus. However, the observed dominance can vary with…

Populations and Evolution · Quantitative Biology 2023-12-05 Juan Li , Claudia Bank

Although many phenotypic traits are determined by a large number of genetic variants, the behavior of allele frequencies in a polygenic trait is not completely understood. The problem is especially challenging when the quantitative trait of…

Populations and Evolution · Quantitative Biology 2026-03-31 Archana Devi , Kavita Jain
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