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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

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

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

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,…

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

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

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

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) 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

Understanding the genetic underpinnings of complex traits and diseases has been greatly advanced by genome-wide association studies (GWAS). However, a significant portion of trait heritability remains unexplained, known as ``missing…

Genomics · Quantitative Biology 2024-09-05 Samhita Pal , Xinge Jessie Jeng

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

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

Gene regulatory networks (GRNs) represent the causal relationships between transcription factors (TFs) and target genes in single-cell RNA sequencing (scRNA-seq) data. Understanding these networks is crucial for uncovering disease…

Artificial Intelligence · Computer Science 2024-10-22 Tejumade Afonja , Ivaxi Sheth , Ruta Binkyte , Waqar Hanif , Thomas Ulas , Matthias Becker , Mario Fritz

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…

Plasticity-led evolution is a form of evolution where a change in the environment induces novel traits via phenotypic plasticity, after which the novel traits are genetically accommodated over generations under the novel environment. This…

Populations and Evolution · Quantitative Biology 2023-01-18 Eden Tian Hwa Ng , Akira R. Kinjo

Predicting how genetic variation affects phenotypic outcomes at the organismal, cellular, and molecular levels requires deciphering the cis-regulatory code, the sequence rules by which non-coding regions regulate genes. In this perspective,…

The two most fundamental processes describing change in biology, development and evolu-tion, occur over drastically different timescales, difficult to reconcile within a unified framework. Development involves temporal sequences of cell…

Biological Physics · Physics 2020-09-08 Enrico Borriello , Sara I. Walker , Manfred D. Laubichler

Cellular phenotypes are determined by the dynamical activity of networks of co-regulated genes. Elucidating such networks is crucial for the understanding of normal cell physiology as well as for the dissection of complex pathologic…

Molecular Networks · Quantitative Biology 2007-05-23 Kai Wang , Nilanjana Banerjee , Adam Margolin , Ilya Nemenman , Katia Basso , Riccardo Favera , Andrea Califano

The main goal of Systems Biology research is to reconstruct biological networks for its topological analysis so that reconstructed networks can be used for the identification of various kinds of disease. The availability of high-throughput…

Systems and Control · Computer Science 2013-07-02 Khalid Raza , Rajni Jaiswal
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