Fundamentals in Human Genetics and Genomics

Course Type
Postgraduate, Continuing professional development, Module

Module overview

The aim of this module is to prepare students to understand the role of genetics in disease, how genomic information can be utilised to elucidate disease mechanism and biology, and its role in personalised medicine. This module will serve as a foundation for those wishing to advance their careers within the NHS in genomic medicine.

This module will cover the structure and variations in the human genomics, including fundamental principles of genetics and genomics. Students undertaking this module will review the architecture of the human genome and the functional units embedded in it. In addition this module will cover DNA sequence variation and how variation is structured across the genome explaining the principles of linkage disequilibrium and its extent in human populations (e.g. HapMap project). Students will also cover aspects of gene regulation and chromatin structure and understand the importance of genotype to phenotype correlation.

Module content

  • Structure and organisation of the human genome and genetic variation within it.
  • Overview of DNA replication, transcription and translation.
  • Overview of cell division (mitosis, meiosis) and recombination.
  • Gene regulation: enhancers, promoters, transcription factors, silencers and the role of epigenetics.
  • DNA sequence variation, type and frequency, for example, single nucleotide variants (SNVs), small insertions and deletions (indels), copy number variation (CNVs), rearrangements and tandem repeats.
  • How variation arises and its extent in populations.
  • Concept of Hardy-Weinberg equilibrium
  • Mutational mechanisms: how different types of DNA variants (including epigenetics and imprinting) affect gene function or expression to cause disease.
  • Correlation of genotype with phenotype, including penetrance and variation in expression.
  • Concepts of heterogeneity and pleiotropy.
  • Modes of inheritance for clinical manifestation of human variation.


15 Masters level credits

Module attendance required

Teaching delivered over 5 days.

Module dates

Semester 1

Module Leads 

Professor Ferenc Müller (Professor of Developmental Genetics, Institute of Cancer and Genomic Sciences).
Dr Richard Tuxworth (Senior Lecturer, Institute of Cancer and Genomic Sciences)

Module prerequisites

This module can be taken as a stand-alone assessed or non-assessed course. 

To apply, students should have a good honours degree in a life sciences subject, although we will consider applicants with alternative qualifications and professional experience within the health service or other relevant background.

Please contact the Programme Coordinator for further information at


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