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Fundamentals of Human Genetics and Genomics

Module description

This module can be taken online.

The module begins by covering basic concepts in genetics and molecular biology:

• the relationship between DNA, RNA, and protein
• functional elements in the human genome (enhancers, promoters, introns, exons, untranslated regions) and their role in gene regulation
• DNA replication, mitosis, and meiosis
• The module then introduces genetic variation:
• the different types of variants (SNVs, indels, CNVs, chromosomal aneuploidies)
• how variation arises
• the extent of variation in human populations.
• The module ends with a review of some of the fundamental tools used in in genomics and genomic medicine:
• the reference genome
• basics of genetic technologies
• use of genome browsers
• modes of inheritance
• linkage and linkage disequilibrium
• epigenetics and imprinting
• pleiotropy and heterogeneity.

Module aims - intentions of the module

This foundation module aims to provide you with an introduction to the key areas of cell biology, genomics, human genetics, and genetic variation. It will give you a fundamental understanding of how genomic medicine is/will/can be utilised to elucidate disease mechanisms and biology.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

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

• 1. Explain core elements of genome architecture, including the properties of DNA and chromatin structure
• 2. Critically evaluate the regulation of gene expression, transcription, and translation
• 3. Interpret variation in genome structure and sequence in the context of physiological function and disease, and across human populations

ILO: Discipline-specific skills

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

• 4. Describe the correlation between genotype and phenotype
• 5. Discuss the range of variation in the genome and its role in disease
• 6. Identify the range, purposes, benefits, and potential risks of sharing, integrating, and aggregating genomic data and clinical information.
• 7. Critically evaluate the use of genomic data in personalised medicine.

ILO: Personal and key skills

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

• 8. Communicate accurately and effectively with peers, tutors, and the public.

Syllabus plan

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

• Introduction to terminology
• How to read a scientific paper
• Introduction to history of DNA and genomic medicine
• Architecture of the human genome and genetic variation within it.
• Centre dogma, understanding the relationship between DNA, RNA, and proteins
• Gene structure and regulation: enhancers, promoters, transcription factors, silencers.
• Mitosis and meiosis.
• DNA sequence variation, type, and frequency, e.g., SNVs, indels, CNVs, rearrangements, STRs.
• How variation arises and its extent in populations (e.g., HapMap,1000G, ExAC/gnomAD).
• Introduction to linkage, linkage disequilibrium and Hardy-Weinberg equilibrium
• Mutational mechanisms: how DNA variants affect gene function or expression to cause disease
• Correlation of genotype with phenotype in rare and common diseases.
• Concepts of heterogeneity and pleiotropy.
• Modes of inheritance for clinical manifestation of human variation.
• Introduction to epigenetics and imprinting.
• Basic understanding of and familiarisation with genome browsers.
• Basic introduction to genetic technologies.
• Approaches to data analysis, sharing and aggregation in large-scale genomics projects

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: http://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. Read, A.P. and Donnai, D. (2021) New Clinical Genetics. Banbury, UK: Scion.
3. Turnpenny, P.D., Ellard, S. and Cleaver, R. (2022) Emery's elements of medical genetics and Genomics. Philadelphia, PA: Elsevier.
4. 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

ELE – https://vle.exeter.ac.uk/course/view.php?id=9120

Henry Stewart Talks – Introduction to Human Genetics:

https://hstalks.com/playlist/1069/introduction-to-human-genetics-and-genomics/?biosci

Key words search

Genomics, human genetics, genetic variation, inheritance, mutation