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In medical genetics, each genetic variant is evaluated as an independent entity regarding its clinical importance. However, in most complex diseases, variant combinations in specific gene networks, rather than the presence of a particular…

机器学习 · 计算机科学 2023-01-30 Suha Tuna , Cagri Gulec , Emrah Yucesan , Ayse Cirakoglu , Yelda Tarkan Arguden

Understanding how genetic variants influence cellular-level processes is an important step towards understanding how they influence important organismal-level traits, or "phenotypes", including human disease susceptibility. To this end…

统计方法学 · 统计学 2013-07-30 Heejung Shim , Matthew Stephens

This work is devoted to investigating the evolution of concentration in a genetic regulation system, when the synthesis reaction rate is under additive and multiplicative asymmetric stable L\'evy fluctuations. By focusing on the impact of…

生物物理 · 物理学 2018-03-02 Hui Wang , Xiujun Cheng , Jinqiao Duan , Jürgen Kurths , Xiaofan Li

Multistable gene regulatory systems sustain different levels of gene expression under identical external conditions. Such multistability is used to encode phenotypic states in processes including nutrient uptake and persistence in bacteria,…

分子网络 · 定量生物学 2014-12-05 Prasanna M. Bhogale , Robin A. Sorg , Jan-Willem Veening , Johannes Berg

The evolution and emergence of antibiotic resistance is a major public health concern. The understanding of the within-host microbial dynamics combining mutational processes, horizontal gene transfer and resource consumption, is one of the…

种群与进化 · 定量生物学 2020-03-09 Ramsès Djidjou-Demasse , Samuel Alizon , Mircea T. Sofonea

Horizontal gene transfer events partition a gene tree $T$ and thus, its leaf set into subsets of genes whose evolutionary history is described by speciation and duplication events alone. Indirect phylogenetic methods can be used to infer…

离散数学 · 计算机科学 2021-12-02 David Schaller , Marc Hellmuth , Peter F. Stadler

Phylogenomics heavily relies on well-curated sequence data sets that consist, for each gene, exclusively of 1:1-orthologous. Paralogs are treated as a dangerous nuisance that has to be detected and removed. We show here that this severe…

Quantification of heritability is a fundamental desideratum in genetics, which allows an assessment of the contribution of additive genetic variation to the variability of a trait of interest. The traditional computational approaches for…

应用统计 · 统计学 2023-05-03 The Tien Mai , John A Lees , Rebecca A Gladstone , Jukka Corander

Pre-trained large language models(LLMs) have attracted increasing attention in biomedical domains due to their success in natural language processing. However, the complex traits and heterogeneity of multi-sources genomics data pose…

Many spreading processes in our real-life can be considered as a complex contagion, and the linear threshold (LT) model is often applied as a very representative model for this mechanism. Despite its intensive usage, the LT model suffers…

物理与社会 · 物理学 2020-08-18 Yijun Ran , Xiaomin Deng , Xiaomeng Wang , Tao Jia

Bacteria are known to exchange genetic information by horizontal gene transfer. Since the frequency of homologous recombination depends on the similarity of recombining segments, several studies examined whether this could lead to the…

概率论 · 数学 2015-06-09 Sergey Pirogov , Aleksandre Rybko , Anastasia Kalinina , Mikhail Gelfand

Major unresolved questions in evolutionary genetics include determining the contributions of different mutational sources to the total pool of genetic variation in a species, and understanding how these different forms of genetic variation…

种群与进化 · 定量生物学 2013-08-20 Lex E. Flagel , John H. Willis , Todd J. Vision

Background. The large-scale pattern of distribution of genes on the chromosomes in the known animal genomes is not well characterized. We hypothesized that individual genes will be distributed on chromosomes in a mathematically ordered…

其他定量生物学 · 定量生物学 2019-12-17 Abdullah A. Toor , Amir A. Toor MD

A common practice in microarray analysis is to transform the microarray raw data (light intensity) by a logarithmic transformation, and the justification for this transformation is to make the distribution more symmetric and Gaussian-like.…

定量方法 · 定量生物学 2016-11-17 Wentian Li , Young Ju Suh , Jingshan Zhang

Gene expression is a complex and quantitative trait that is influenced by both genetic and non-genetic regulators including environmental factors. Evaluating the contribution of environment to gene expression regulation and identifying…

基因组学 · 定量生物学 2019-06-27 Ke Tang , Wei Zhang

The effect of sequence heterogeneity on polynucleotide translocation across a pore and on simple models of molecular motors such as helicases, DNA polymerase/exonuclease and RNA polymerase is studied in detail. Pore translocation of RNA or…

统计力学 · 物理学 2009-11-10 Yariv Kafri , David K. Lubensky , David R. Nelson

We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease. We predict that the mutation rate and its genetic diversity should be higher…

种群与进化 · 定量生物学 2015-06-17 Ying Chen Eyre-Walker , Adam Eyre-Walker

DNA rearrangement processes recombine gene segments that are organized on the chromosome in a variety of ways. The segments can overlap, interleave or one may be a subsegment of another. We use directed graphs to represent segment…

机器学习 · 统计学 2018-01-30 Mustafa Hajij , Nataša Jonoska , Denys Kukushkin , Masahico Saito

The relationship between traits that influence pathogen virulence and transmission is part of the central canon of the evolution and ecology of infectious disease. However, identifying directional and mechanistic relationships among traits…

种群与进化 · 定量生物学 2026-02-06 Sudam Surasinghe , C. Brandon Ogbunugafor