What is eQTL data?
Table of Contents
What is eQTL data?
An eQTL is a locus that explains a fraction of the genetic variance of a gene expression phenotype. Standard eQTL analysis involves a direct association test between markers of genetic variation with gene expression levels typically measured in tens or hundreds of individuals.
What is eQTL mapping?
Expression quantitative trait loci (eQTL) mapping is often used to identify genetic loci and candidate genes correlated with traits. Although usually a group of genes affect complex traits, genes in most eQTL mapping methods are considered as independent.
Is SNP an eQTL?
It is known that SNPs located in regulatory regions, e.g. transcription factor (TF) binding sites, are often eQTLs, as they modulate gene expression [14, 15].
What is eQTL effect size?
The effect size of an eQTL describes the magnitude of the effect that it has on gene expression and is an important statistic for characterizing the nature of regulatory variants.
Why is eQTL important?
Identification of eQTLs has proven to be a powerful tool in the study and understanding of diseases in human and other populations. Using modern genotype and expression arrays, a typical eQTL analysis can involve millions of SNPs and tens of thousands of genes, making computation and multiple testing key challenges.
How is eQTL performed?
Mapping eQTLs is done using standard QTL mapping methods that test the linkage between variation in expression and genetic polymorphisms. The only considerable difference is that eQTL studies can involve a million or more expression microtraits.
How do you find eQTL?
Expression QTLs (eQTLs) are identified by applying QTL analysis to data assessing gene expression in a segregating population. Transcript abundance of each gene is the analyzed phenotype. eQTL analysis requires genetic markers that can be genotyped in all individuals in the analyzed population.
What does a low polygenic score mean?
Polygenic risk scores for a disease for different people in a population. Each circle represents a person. Those with higher scores (red) are more likely to get the disease and those with lower scores (yellow) are less likely to get the disease.
What does linkage disequilibrium tell us?
Linkage disequilibrium — the nonrandom association of alleles at different loci — is a sensitive indicator of the population genetic forces that structure a genome.
