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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.…

应用统计 · 统计学 2017-09-08 Gen Li , Dereje D. Jima , 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…

应用统计 · 统计学 2020-01-24 Aaron J. Molstad , Wei Sun , Li Hsu

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…

定量方法 · 定量生物学 2013-08-12 Timothée Flutre , Xiaoquan Wen , Jonathan Pritchard , Matthew Stephens

The Genotype-Tissue Expression (GTEx) project collects samples from multiple human tissues to study the relationship between genetic variation or single nucleotide polymorphisms (SNPs) and gene expression in each tissue. However, most…

统计方法学 · 统计学 2022-11-28 Fei Xue , Hongzhe Li

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,…

基因组学 · 定量生物学 2023-02-24 Jingfei Zhang , Hongyu Zhao

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…

基因组学 · 定量生物学 2011-05-31 Andrey A. Shabalin

Motivated by the genomic application of expression quantitative trait loci (eQTL) mapping, we propose a new procedure to perform simultaneous testing of multiple hypotheses using Bayes factors as input test statistics. One of the most…

统计方法学 · 统计学 2016-06-09 Xiaoquan Wen

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…

应用统计 · 统计学 2018-06-08 Snigdha Panigrahi , Junjie Zhu , Chiara Sabatti

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 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…

定量方法 · 定量生物学 2014-12-10 Inma Tur , Alberto Roverato , Robert Castelo

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…

分子网络 · 定量生物学 2016-11-02 Lingfei Wang , Tom Michoel

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…

基因组学 · 定量生物学 2015-11-12 Christopher D Brown , Lara M Mangravite , Barbara E Engelhardt

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…

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,…

应用统计 · 统计学 2018-04-10 Jacob Rhyne , Jung-Ying Tzeng , Teng Zhang , X. Jessie Jeng

In recent years, functional genomics approaches combining genetic information with bulk RNA-sequencing data have identified the downstream expression effects of disease-associated genetic risk factors through so-called expression…

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…

基因组学 · 定量生物学 2019-06-13 Dimitrios V Vavoulis

Identifying genetic variants that regulate quantitative traits, or QTLs, is the primary focus of the field of statistical genetics. Most current methods are limited to identifying mean effects, or associations between genotype and the mean…

定量方法 · 定量生物学 2015-12-08 Bianca Dumitrascu , Gregory Darnell , Julien Ayroles , Barbara E Engelhardt

This paper describes a Bayesian statistical method for determining the genetic basis of a complex genetic trait. The method uses a sample of unrelated individuals classified into two groups, for example cases and controls. Each group is…

基因组学 · 定量生物学 2008-02-21 Toby Johnson

The study of expression Quantitative Trait Loci (eQTL) is an important problem in genomics and biomedicine. While detection (testing) of eQTL associations has been widely studied, less work has been devoted to the estimation of eQTL effect…

统计方法学 · 统计学 2017-09-08 John Palowitch , Andrey Shabalin , Yihui Zhou , Andrew B. Nobel , Fred A. Wright

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…

统计方法学 · 统计学 2014-04-15 Xiaoquan Wen , Matthew Stephens
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