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Genetic differences between individuals associated to quantitative phenotypic traits, including disease states, are usually found in non-coding genomic regions. These genetic variants are often also associated to differences in expression…

Molecular Networks · Quantitative Biology 2016-11-02 Lingfei Wang , Tom Michoel

Studies of the genetic loci that contribute to variation in gene expression frequently identify loci with broad effect on gene expression: expression quantitative trait locus (eQTL) hotspots. We describe a set of exploratory graphical…

Expression quantitative trait loci (eQTL) mapping aims to determine genomic regions that regulate gene transcription. Expression QTL is used to study the regulatory structure of normal tissues and to search for genetic factors in complex…

Genomics · Quantitative Biology 2011-05-31 Andrey A. Shabalin

An expression quantitative trait locus (eQTL) is a chromosomal region where genetic variants are associated with the expression levels of certain genes that can be both nearby or distant. The identifications of eQTLs for different tissues,…

Genomics · Quantitative Biology 2023-02-24 Jingfei Zhang , Hongyu Zhao

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…

Methodology · Statistics 2017-09-08 Gen Li , Andrey A. Shabalin , Ivan Rusyn , Fred A. Wright , Andrew B. Nobel

Transcriptome-wide association studies based on genetically predicted gene expression have the potential to identify novel regions associated with various complex traits. It has been shown that incorporating expression quantitative trait…

Applications · Statistics 2020-01-24 Aaron J. Molstad , Wei Sun , Li Hsu

Genome-wide eQTL mapping explores the relationship between gene expression values and DNA variants to understand genetic causes of human disease. Due to the large number of genes and DNA variants that need to be assessed simultaneously,…

Applications · Statistics 2018-04-10 Jacob Rhyne , Jung-Ying Tzeng , Teng Zhang , X. Jessie Jeng

In a mouse intercross with more than 500 animals and genome-wide gene expression data on six tissues, we identified a high proportion (18%) of sample mix-ups in the genotype data. Local expression quantitative trait loci (eQTL; genetic loci…

Mapping expression Quantitative Trait Loci (eQTLs) represents a powerful and widely-adopted approach to identifying putative regulatory variants and linking them to specific genes. Up to now eQTL studies have been conducted in a relatively…

Quantitative Methods · Quantitative Biology 2013-08-12 Timothée Flutre , Xiaoquan Wen , Jonathan Pritchard , Matthew Stephens

Expression quantitative trait loci (eQTL) analysis identifies genetic markers associated with the expression of a gene. Most existing eQTL analyses and methods investigate association in a single, readily available tissue, such as blood.…

Applications · Statistics 2017-09-08 Gen Li , Dereje D. Jima , Fred A. Wright , Andrew B. Nobel

Genetic variants in cis-regulatory elements or trans-acting regulators commonly influence the quantity and spatiotemporal distribution of gene transcription. Recent interest in expression quantitative trait locus (eQTL) mapping has…

Genomics · Quantitative Biology 2015-11-12 Christopher D Brown , Lara M Mangravite , Barbara E Engelhardt

Causal inference approaches in systems genetics exploit quantitative trait loci (QTL) genotypes to infer causal relationships among phenotypes. The genetic architecture of each phenotype may be complex, and poorly estimated genetic…

Applications · Statistics 2010-10-08 Elias Chaibub Neto , Mark P. Keller , Alan D. Attie , Brian S. Yandell

Many biological phenomena undergo developmental changes in time and space. Functional mapping, which is aimed at mapping genes that affect developmental patterns, is instrumental for studying the genetic architecture of biological changes.…

Methodology · Statistics 2016-05-24 Jiguo Cao , Liangliang Wang , Zhongwen Huang , Junyi Gai , Rongling Wu

Genetic variation affecting gene regulation is a central driver of phenotypic differences between individuals and can be used to uncover how biological processes are organized in a cell. Although detecting cis-eQTLs is now routine,…

Most statistical methods for QTL mapping focus on a single phenotype. However, multiple phenotypes are commonly measured, and recent technological advances have greatly simplified the automated acquisition of numerous phenotypes, including…

Applications · Statistics 2014-08-11 Il-Youp Kwak , Candace R. Moore , Edgar P. Spalding , Karl W. Broman

Testing the existence of a quantitative trait locus (QTL) effect is an important task in QTL mapping studies. Most studies concentrate on the case where the phenotype distributions of different QTL groups follow normal distributions with…

Methodology · Statistics 2025-07-22 Guanfu Liu , Pengfei Li , Yukun Liu , Xiaolong Pu

Background and Aims: Prediction of phenotypic traits from new genotypes under untested environmental conditions is crucial to build simulations of breeding strategies to improve target traits. Although the plant response to environmental…

Statistics Theory · Mathematics 2010-10-27 Veronique Letort , Paul Mahe , Paul-Henry Cournède , Philippe De Reffye , Brigitte Courtois

The discovery of genomic polymorphisms influencing gene expression (also known as expression quantitative trait loci or eQTLs) can be formulated as a sparse Bayesian multivariate/multiple regression problem. An important aspect in the…

Genomics · Quantitative Biology 2019-06-13 Dimitrios V Vavoulis

Genetic association analyses often involve data from multiple potentially-heterogeneous subgroups. The expected amount of heterogeneity can vary from modest (e.g., a typical meta-analysis) to large (e.g., a strong gene--environment…

Methodology · Statistics 2014-04-15 Xiaoquan Wen , Matthew Stephens

Genetic association studies for brain connectivity phenotypes have gained prominence due to advances in non-invasive imaging techniques and quantitative genetics. Brain connectivity traits, characterized by network configurations and unique…

Methodology · Statistics 2023-05-17 Xinyuan Tian , Yiting Wang , Selena Wang , Yi Zhao , Yize Zhao
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