Disease Mechanism and Genetic Analysis: From GWAS to Biological Insights - Lecture 18

Disease Mechanism and Genetic Analysis: From GWAS to Biological Insights - Lecture 18

Manolis Kellis via YouTube Direct link

Lecture Overview

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1 of 21

Lecture Overview

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Disease Mechanism and Genetic Analysis: From GWAS to Biological Insights - Lecture 18

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  1. 1 Lecture Overview
  2. 2 Review: Genetics, Variation, GWAS, Polygenic scores PGS
  3. 3 From GWAS to biological insights
  4. 4 Bayesian Fine-Mapping
  5. 5 Sub-threshold Region Prioritization
  6. 6 GWAS locus dissection: enriched tissues, driver SNPs, target genes
  7. 7 Partitioning complex traits into tissue-specific components
  8. 8 From Individual GWAS Region to Mechanism and Circuitry
  9. 9 Introduction to FTO locus, strongest Genetic Association with Obesity
  10. 10 Step 1 - Establish relevant tissue/cell type
  11. 11 Step 2 - Establish downstream target genes
  12. 12 Step 3 - Establishing causal nucleotide variant
  13. 13 Step 4 - Establish upstream regulator causality
  14. 14 Step 5 - Establish cellular phenotypic consequences
  15. 15 Step 6 - Establish organismal phenotypic consequences
  16. 16 Quantitative Trait Loci: eQTL/meQTLanalysis
  17. 17 Mediation Analysis + Mendelian Randomization
  18. 18 Heritability and Systems Genetics
  19. 19 Partitioning heritability by functional annotations
  20. 20 Omnigenic vs. polygenic vs. monogenic inheritance
  21. 21 Summary

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