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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

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

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

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

Expression quantitative trait loci (eQTL) mapping constitutes a challenging problem due to, among other reasons, the high-dimensional multivariate nature of gene-expression traits. Next to the expression heterogeneity produced by…

Quantitative Methods · Quantitative Biology 2014-12-10 Inma Tur , Alberto Roverato , Robert Castelo

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…

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

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

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

The goal of eQTL studies is to identify the genetic variants that influence the expression levels of the genes in an organism. High throughput technology has made such studies possible: in a given tissue sample, it enables us to quantify…

Applications · Statistics 2018-06-08 Snigdha Panigrahi , Junjie Zhu , Chiara Sabatti

For many traits, including susceptibility to common diseases in humans, causal loci uncovered by genetic mapping studies explain only a minority of the heritable contribution to trait variation. Multiple explanations for this "missing…

Genomics · Quantitative Biology 2015-06-11 Joshua S. Bloom , Ian M. Ehrenreich , Wesley Loo , Thúy-Lan Võ Lite , Leonid Kruglyak

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

Modelling the evolution of a continuous trait in a biological population is one of the oldest problems in evolutionary biology, which led to the birth of quantitative genetics. With the recent development of GWAS methods, it has become…

Probability · Mathematics 2026-04-20 Philibert Courau , Amaury Lambert , Emmanuel Schertzer

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

Numerous traits under migration-selection balance are shown to exhibit complex patterns of genetic architecture with large variance in effect sizes. However, the conditions under which such genetic architectures are stable have yet to be…

Populations and Evolution · Quantitative Biology 2022-11-01 Léonard Dekens , Sarah P. Otto , Vincent Calvez

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

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

Adaptation in response to selection on polygenic phenotypes may occur via subtle allele frequencies shifts at many loci. Current population genomic techniques are not well posed to identify such signals. In the past decade, detailed…

Populations and Evolution · Quantitative Biology 2014-08-19 Jeremy J. Berg , Graham Coop

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

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
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