Explore a comprehensive lecture on genetic disease studies and analysis methods, covering the evolution of genetics from historical perspectives to modern genomic approaches. Learn about disease-associated variants, the challenges of understanding genetic mechanisms, and the relationship between genetic variation and disease. Master key concepts including variant definitions, haplotype blocks, and genome-wide association studies (GWAS). Examine the differences between common weak-effect and rare strong-effect variants, compare family studies with population-based approaches, and understand population differences through ancestry painting and PCA. Delve into practical applications with polygenic scores (PGS) and polygenic risk scores (PRS), while gaining insights into genome-wide functional enrichments for mechanistic understanding of genetic diseases.
Disease GWAS, PRS, and Genetic Mechanisms in Modern Medicine - Lecture 17
Overview
Syllabus
Genetics: From Ancient Times to Today
Disease-associated Variants
Challenge of Mechanism
Variation and Disease
Defining Variants
Common Variants and Haplotype Blocks
GWAS Genome-wide Association Studies: Genotype-Phenotype
Common/weak-effect vs. Rare/Strong-effect variants
Family studies Linkage Analysis vs. Unrelated Individuals GWAS
Population Differences, Ancestry Painting, PCA, Multi-Ethnic Fine-Mapping
Polygenic Scores PGS and Polygenic Risk Scores PRS
Mechanistic Insights from Genome-Wide Functional Enrichments
Summary
Taught by
Manolis Kellis
