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Module leads

BSc (Hons) MSc PhD (Cantab) FESC Jemma Hopewell - Professor of Precision Medicine & Epidemiology Jemma Hopewell

DPhil Iona Millwood - Senior Epidemiologist; University Research Lecturer Iona Millwood

Learning objectives:

On completion of the module students should understand and have a working knowledge of:

  • The fundamental concepts of genetic epidemiology such as autosomal and X-linked inheritance, haplotypes, linkage disequilibrium and Hardy-Weinberg equilibrium.
  • How twin studies can be used to recognise and quantify the heritability of human diseases and quantitative traits, as well as the concept of ‘missing heritability’ and possible explanations.
  • Statistical approaches to analysing quantitative and binary traits and estimating statistical power, and also be able to implement these. Different genetic study designs and the relevance of population stratification. Publically available genetic resources, the basic principles of genotype imputation, and the advantages and disadvantages of this technique.
  • Candidate and genome-wide association approaches, importance of adjustments for multiple testing, and the relevance of replication and meta-analysis. The concept of Mendelian randomisation and its uses in assessing causality. The general capabilities of next generation sequencing technologies and what they are used for. 



  1. Fundamental concepts of human genetic epidemiology
  2. Familial aggregation, heritability and segregation analysis
  3. Principles of genetic association studies, family-relatedness and population stratification
  4. Genetic resources and genotype imputation
  5. Genetic associations I: candidate gene association studies
  6. Genetic associations II: genome-wide association studies
  7. Mendelian randomisation studies
  8. Next generation sequencing and beyond GWAS