Genetics of gene expression
Genetics of gene expression
Categories:
Landmark paper
The GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318–1330 (2020).
See also the GTEx portal
The GTEx Consortium atlas of genetic regulatory effects across human tissues
Figure 1
Sample and data types in the GTEx v8 study
Figure obtained from full text on EuropePMC.
Concepts
- Genome-wide association studies (GWAS)
- Expression quantitative trait locus (eQTL)
- cis vs trans eQTLs
Figure 2
QTL discovery
Figure obtained from full text on EuropePMC.
Concepts
- Linkage disequilibrium (LD)
- Stepwise regression
Figure 3
QTL discovery
Figure obtained from full text on EuropePMC.
Concepts
- Statistical finemapping
- ENCODE in GWAS
Figure 4
Functional mechanisms of genetic regulatory effects
Figure obtained from full text on EuropePMC.
Concepts
- Enrichment in functional annotations
- Mediation analysis
Figure 5
Regulatory mechanisms of GWAS loci
Figure obtained from full text on EuropePMC.
Concepts
- Mendelian randomization (MR)
Figure 6
Tissue specificity of cis-QTLs
Figure obtained from full text on EuropePMC.
Concepts
- Logistic regression
Figure 7
Cell type interaction cis-eQTLs and cis-sQTLs
Figure obtained from full text on EuropePMC.
Last modified May 30, 2023: update Gaussian processes (ff6a6c2)