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Genome-wide association study (GWAS) tests single nucleotide polymorphism (SNP) markers across the genome to localize the underlying causal variant of a trait. Because causal variants are seldom observed directly, a surrogate model based on…

Populations and Evolution · Quantitative Biology 2023-03-03 Hanbin Lee , Moo Hyuk Lee

This short paper presents an abstract, tunable model of genomic structural change within the cell lifecycle and explores its use with simulated evolution. A well-known Boolean model of genetic regulatory networks is extended to include…

Computational Engineering, Finance, and Science · Computer Science 2012-01-18 Larry Bull

When testing for the association of a single SNP with a phenotypic response, one usually considers an additive genetic model, assuming that the mean of of the response for the heterozygous state is the average of the means for the two…

Methodology · Statistics 2025-01-07 Dominic Edelmann , Fernando Castro-Prado , Jelle J. Goeman

The study of genomic variation has provided key insights into the functional role of mutations. Predominantly, studies have focused on single nucleotide variants (SNV), which are relatively easy to detect and can be described with rich…

Genomics · Quantitative Biology 2015-09-04 Daniel R. Zerbino , Tracy Ballinger , Benedict Paten , Glenn Hickey , David Haussler

An important part of the analysis of bio-molecular networks is to detect different functional units. Different functions are reflected in a different evolutionary dynamics, and hence in different statistical characteristics of network…

Molecular Networks · Quantitative Biology 2007-05-23 Johannes Berg , Michael Lässig

Genome-wide association studies (GWAS) have emerged as a rich source of genetic clues into disease biology, and they have revealed strong genetic correlations among many diseases and traits. Some of these genetic correlations may reflect…

Methodology · Statistics 2018-11-28 Luke J. O'Connor , Alkes L. Price

Non-invasive measurements of the human brain using magnetic resonance imaging (MRI) have significantly improved our understanding the brain's network organization by enabling measurement of anatomical connections between brain regions…

Applications · Statistics 2025-12-10 Keshav Motwani , Ali Shojaie , Ariel Rokem , Eardi Lila

We calculate the mutual information function for each of the 24 chromosomes in the human genome. The same correlation pattern is observed regardless the individual functional features of each chromosome. Moreover, correlations of different…

Genomics · Quantitative Biology 2007-05-23 R. Mansilla , N. Del Castillo , T. Govezensky , P. Miramontes , M. Jose , G. Coch

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single…

Applications · Statistics 2017-03-22 Hélène Ruffieux , Anthony C. Davison , Jörg Hager , Irina Irincheeva

A structural causal model is made of endogenous (manifest) and exogenous (latent) variables. We show that endogenous observations induce linear constraints on the probabilities of the exogenous variables. This allows to exactly map a causal…

Artificial Intelligence · Computer Science 2020-08-04 Marco Zaffalon , Alessandro Antonucci , Rafael Cabañas

Integrative network modeling of data arising from multiple genomic platforms provides insight into the holistic picture of the interactive system, as well as the flow of information across many disease domains including cancer. The basic…

Methodology · Statistics 2020-02-18 Min Jin Ha , Francesco Stingo , Veerabhadran Baladandayuthapani

Understanding and adequately assessing the difference between a true and a learnt causal graphs is crucial for causal inference under interventions. As an extension to the graph-based structural Hamming distance and structural intervention…

Machine Learning · Statistics 2023-08-01 Mihir Dhanakshirur , Felix Laumann , Junhyung Park , Mauricio Barahona

Living organisms produce metabolites of many types via their metabolisms. Especially, flavonoids, a kind of secondary metabolites, of plant species are interesting examples. Since plant species are believed to have specific flavonoids with…

Populations and Evolution · Quantitative Biology 2015-03-19 Kazuhiro Takemoto

Genetical genomics experiments have now been routinely conducted to measure both the genetic markers and gene expression data on the same subjects. The gene expression levels are often treated as quantitative traits and are subject to…

Applications · Statistics 2012-03-01 Jianxin Yin , Hongzhe Li

A hierarchical structure describing the inter-relationships of species has long been a fundamental concept in systematic biology, from Linnean classification through to the more recent quest for a 'Tree of Life.' In this paper we use an…

Populations and Evolution · Quantitative Biology 2009-08-21 Andreas Dress , Vincent Moulton , Mike Steel , Taoyang Wu

Increasing evidence suggests that chromosome folding and genetic expression are intimately connected. For example, the co-expression of a large number of genes can benefit from their spatial co-localization in the cellular space.…

Soft Condensed Matter · Physics 2018-03-13 Guillaume Le Treut

Spatial connectivity is an important consideration when modelling infectious disease data across a geographical region. Connectivity can arise for many reasons, including shared characteristics between regions, and human or vector movement.…

Methodology · Statistics 2022-06-06 Sophie A Lee , Theodoros Economou , Rachel Lowe

Constructing gene regulatory networks is a fundamental task in systems biology. We introduce a Gaussian reciprocal graphical model for inference about gene regulatory relationships by integrating mRNA gene expression and DNA level…

Methodology · Statistics 2016-07-26 Yang Ni , Yuan Ji , Peter Mueller

Structural causal models describe how the components of a robotic system interact. They provide both structural and functional information about the relationships that are present in the system. The structural information outlines the…

Robotics · Computer Science 2025-08-12 Alejandro Murillo-Gonzalez , Junhong Xu , Lantao Liu

Structure learning of Gaussian graphical models is an extensively studied problem in the classical multivariate setting where the sample size n is larger than the number of random variables p, as well as in the more challenging setting when…

Methodology · Statistics 2012-02-20 Inma Tur , Robert Castelo