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  • Personal Genomics for Bioinformaticians

Module 1 - Introduction

  • Chapter 1: Introduction to the human genome
    • 1.1 The structure of DNA
    • 1.2 Organization of the human genome
    • 1.3 Genes and the central dogma
    • 1.4 The non-coding genome
    • 1.5 Genetic variation terminology
  • Chapter 2: Overview of technologies for genome analysis
    • 2.1 Genotyping arrays
    • 2.2 Next-generation sequencing
    • 2.3 Long-read technologies
    • 2.4 Summary of genomics technologies
  • Tutorial 1: file formats for describing genetic variation
    • T1.2 VCF files
    • T1.2 Plink files

Module 2 - Ancestry

  • Chapter 3: Introduction to population genetics
    • 3.1 The four forces of evolution
    • 3.2 Types and patterns of mutations
    • 3.3 Genetic drift
    • 3.4 Selection
    • 3.5 Hardy-Weinberg Equilibrium and random mating
    • 3.6 Measuring population differentiation with Fst
    • 3.7 Recombination
    • Activity: Exploring the Wright-Fisher model of genetic drift
  • Chapter 4: Global ancestry
    • 4.1 Global ancestry analysis with PCA
    • 4.2 Global ancestry analysis with ADMIXTURE
  • Chapter 5: Relative finding
    • 5.1 Identity by descent
    • 5.2 Expected IBD of close relatives
    • 5.3 Computing expected IBD - plink method
    • 5.4 Computing expected IBD segment sharing
  • Tutorial 2: Working with 1000 Genomes data and plink
    • T2.1 The 1000 Genomes Project dataset (and wrangling VCF files)
    • T2.2 Some tips and examples for using plink

Module 3 - From genotypes to phenotypes

  • Chapter 7: GWAS for complex traits
    • 7.1 GWAS for quantitative traits
    • 7.2 Exploring GWAS association statistics
    • 7.3 Confounding factors in GWAS
    • 7.4 GWAS for case-control traits
    • 7.5 Linear mixed models
    • 7.6 Power to detect associations
  • Chapter 8: Heritability
    • 8.1 Measuring heritability in related individuals
    • 8.2 Measuring SNP-based heritability using LMMs
  • Chapter 9: Polygenic risk scores
    • 9.1 Clumping + Threshold (C+T) method
    • 9.2 Bayesian methods for polygenic risk scores

Appendix 1 - glossary and notation

  • Chapter A1.1: Unix cheat sheet
  • Repository
  • Open issue

Index

By Melissa Gymrek

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