Genome wide association studies

Overview

Summary

This lecture series introduces genome-wide association studies (GWAS), focusing on how genetic variation across the genome is analyzed to identify associations with complex traits and diseases. They explain the foundations of GWAS, including its history, study design, genotyping, quality control, and the interpretation of association signals. The day's lectures include key challenges such as population structure, multiple testing, and replication, as well as inflation due to gene-environment correlations and assortative mating.

  • Originally presented: Day 4, June 4, 2026
  • Lead: Abdel Abdellaoui
  • Topics: Historical overview, PLINK, LMM GWAS, RAP, METAL, rGE and assortative mating, within-family GWAS, interpretation
Overview of GWAS lecture topics

Lectures

This series of lectures is available as a .

Lecture 1: Historical overview

Lecture slides

Lecture 2: Signal vs. noise

Lecture slides

Lecture 3: Analyzing single cohorts, big biobanks, and cohorts combined

Lecture slides

Lecture 4: Gene-environment correlations and assortative mating

Lecture slides

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Practicals

This practical is .