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The case-control design is often used to test associations between the case-control status and genetic variants. In addition to this primary phenotype a number of additional traits, known as secondary phenotypes, are routinely recorded and…

Parental origin effects play an important role in mammal development and disorder. Case-control mother-child pair genotype data can be used to detect parental origin effects and is often convenient to collect in practice. Most existing…

Methodology · Statistics 2022-08-11 Yuang Tian , Hong Zhang , Alexandre Bureau , Hagit Hochner , Jinbo Chen

In modern scientific studies, it is often imperative to determine whether a set of phenotypes is affected by a single factor. If such an influence is identified, it becomes essential to discern whether this effect is contingent upon…

Methodology · Statistics 2024-03-22 Srijan Chattopadhyay , Swapnaneel Bhattacharyya , Sevantee Basu

Additive genetic variance in natural populations is commonly estimated using mixed models, in which the covariance of the genetic effects is modeled by a genetic similarity matrix derived from a dense set of markers. An important but…

Applications · Statistics 2015-09-09 Willem Kruijer

Heritability is a central parameter in quantitative genetics, both from an evolutionary and a breeding perspective. For plant traits heritability is traditionally estimated by comparing within and between genotype variability. This approach…

We show how field- and information theory can be used to quantify the relationship between genotype and phenotype in cases where phenotype is a continuous variable. Given a sample population of phenotype measurements, from various known…

Quantitative Methods · Quantitative Biology 2022-06-10 Jonathan Wattis , Sian Bray , Panagiota Kyratzi , Cyril Rauch

Estimating causal effects is crucial for decision-makers in many applications, but it is particularly challenging with observational network data due to peer interactions. Many algorithms have been proposed to estimate causal effects…

Artificial Intelligence · Computer Science 2024-09-16 Xiaojing Du , Jiuyong Li , Debo Cheng , Lin Liu , Wentao Gao , Xiongren Chen

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

Methodology · Statistics 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

In genetic association studies, detecting phenotype-genotype association is a primary goal. We assume that the relationship between the data -phenotype, genetic markers and environmental covariates - can be modelled by a generalized linear…

Methodology · Statistics 2020-04-13 K. K. Halle , Ø. Bakke , S. Djurovic , A. Bye , E. Ryeng , U. Wisløff , O. A. Andreassen , M. Langaas

The analysis of natural direct and principal stratum direct effects has a controversial history in statistics and causal inference as these effects are commonly identified with either untestable cross world independence or graphical…

Statistics Theory · Mathematics 2020-05-13 Jaffer M. Zaidi , Tyler J. VanderWeele

The direct effect of one eventon another can be defined and measured byholding constant all intermediate variables between the two.Indirect effects present conceptual andpractical difficulties (in nonlinear models), because they cannot be…

Artificial Intelligence · Computer Science 2013-01-14 Judea Pearl

Methods to effectively detect multi-locus genetic association are becoming increasingly relevant in the genetic dissection of complex trait in humans. Current approaches typically consider a limited number of hypotheses, most of which are…

Genomics · Quantitative Biology 2007-05-23 Zhong Li , Aris Floratos , David Wang , Andrea Califano

Genetically identical cells in the same population can take on phenotypically variable states, leading to differentiated responses to external signals, such as nutrients and drug-induced stress. Many models and experiments have focused on a…

Molecular Networks · Quantitative Biology 2015-04-28 Thierry Mora , Aleksandra M. Walczak

In the analysis of complex traits, genetic effects are frequently modelled as either fixed or random effects. Such assumptions serve as a foundation of defining heritability and relatedness using genome-wide single nucleotide polymorphism…

Populations and Evolution · Quantitative Biology 2023-04-28 Hanbin Lee

We consider linear structural equation models with explicitly modelled latent variables. In such models, observed and latent variables solve linear equations including stochastic noise terms. The goal of our work is to identify the direct…

Methodology · Statistics 2026-05-28 Tom Hochsprung , Nils Sturma , Jakob Runge , Mathias Drton , Andreas Gerhardus

Studying phenotype-gene association can uncover mechanism of diseases and develop efficient treatments. In complex disease where multiple phenotypes are available and correlated, analyzing and interpreting associated genes for each…

Methodology · Statistics 2021-12-14 Yujia Li , Yusi Fang , Peng Liu , George C. Tseng

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

Rooted in genetics, human complex diseases are largely influenced by environmental factors. Existing literature has shown the power of integrative gene-environment interaction analysis by considering the joint effect of environmental…

Methodology · Statistics 2022-08-26 Jingyi Zhang , Xu Liu , Honglang Wang , Yuehua Cui

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

In genome-wide prediction, independence of marker allele substitution effects is typically assumed; however, since early stages of this technology it has been known that nature points to correlated effects. In statistics, graphical models…

Quantitative Methods · Quantitative Biology 2017-09-21 Carlos Alberto Martínez , Kshitij Khare , Syed Rahman , Mauricio A. Elzo
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