MIT CompBio Lecture 15 - eQTLs Mediation (Fall 2019)

MIT Computational Biology: Genomes, Networks, Evolution, Health
Prof. Manolis Kellis

Outline for this lecture:
1. Motivations for mapping regulatory variants
2. Ex: Methylation QTLs in Alzheimer’s Disease
3. eQTL conceptual frameworks
4. eQTL discovery: methodologies
5. Insights on eQTL function and biology
- eQTL prevalence and impact
- eQTL positioning
- Reproducibility
- Tissue-specificity
- Gene annotation
- Co-regulation
- Trans-acting eQTL
- Disease-enrichment
- Directionality
- Disease-relevance
6. Allele-specific analysis
7. Mediation analysis & Bayesian inference