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Fundamentals in Human Genetics and Genomics

Module description

This module will start by covering the fundamentals of nucleic acid structure and function, including changes during the cell cycle. Following this you will learn the fundamentals of gene expression and its relationship to the architecture of genes and the genome. Next you will be introduced to the fundamentals of genomic variation, including the various ways in which it can be classified and its frequency. Lastly you will use what you have learnt to enable interpretation of genotype and/or phenotype information for prediction of disease risk, presentation and/or mechanisms.

Module aims - intentions of the module

This module aims for you to gain a fundamental understanding of DNA structure, function, and variation, and recognise its importance to human health and disease. This module will prepare you for further modules in genomic medicine that enable a deeper exploration of how genomic information can be used to improve healthcare, medicine, and our biological understanding of human diseases.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

On successfully completing the module you will be able to...

• 1. Describe the structure and function of nucleic acids and chromosomes, including during the cell cycle
• 2. Discuss the process of gene expression in humans and its relationship to the architecture of genes and the genome

ILO: Discipline-specific skills

On successfully completing the module you will be able to...

• 3. Discuss the classification and frequency of variation present in human genomes
• 4. Analyse genotype and/or phenotype information to infer disease mechanisms and predict disease risk and presentation

ILO: Personal and key skills

On successfully completing the module you will be able to...

• 5. Communicate accurately and effectively with peers, tutors, and the public.
• 6. Learning independently as part of a commitment to continuing professional development.

Syllabus plan

Whilst the module's precise content may vary from year to year, an example of an overall structure is as follows:

• Structure and function of nucleic acids and chromosomes
• The cell cycle, mitosis, meiosis, and recombination
• Gene and genome structure and expression
• Classification and frequency of genetic variation
• How genetic variation causes disease
• Correlation of genotype with phenotype

Learning activities and teaching methods (given in hours of study time)

Details of learning activities and teaching methods

Formative assessment

Summative assessment (% of credit)

Details of summative assessment

Details of re-assessment (where required by referral or deferral)

Re-assessment notes

Please refer to the TQA section on Referral/Deferral: https://as.exeter.ac.uk/academic-policy-standards/tqa-manual/aph/consequenceoffailure/

Indicative learning resources - Basic reading

Textbooks (all available electronically through University of Exeter library):

1. Strachan, T. and Lucassen, A. (2023) Genetics and Genomics in Medicine. Boca Raton, FL: CRC Press.
2. Turnpenny, P.D., Ellard, S. and Cleaver, R. (2021) Emery's Elements of Medical Genetics and Genomics. Philadelphia, PA: Elsevier.
3. Strachan, T. and Read, A.P. (2019) Human Molecular Genetics. Boca Raton, FL: CRC Press.

Relevant papers will be included within each section of the module

Indicative learning resources - Web based and electronic resources

• ELE2 – https://vle.exeter.ac.uk/course/view.php?id=9120
• Web based and electronic resources:
  • Henry Stewart Talks – Introduction to Human Genetics: https://hstalks.com/playlist/281/introduction-to-human-genetics/?biosci

Key words search

Genomics, human genetics, genetic variation, inheritance, mutation