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The University of Southampton

MEDI6119 Introduction to Human Genetics and Genomics

Module Overview

This module will provide clear understanding of the structure and variations in genetic material. Covering basic genetics and genomics, it will prepare participants to understand the role of genetics in disease and how genomic information can be utilised to elucidate disease mechanisms and biology. This module will also provide an understanding of the 100,000 genome project data infrastructure and an introduction to the ethical and legal issues of data sharing, storage and access. During the module students review the architecture of the human genome and the functional units embedded in it, for example enhancers, promoters, coding exons, untranslated regions, etc. It will then cover DNA sequence variation (e.g. single nucleotide variants (SNVs), insertions and deletions, copy number variants (CNVs) and how variation is structured across the genome. They will explore genome structure (for example chromatin structure; histone modifications; DNase-I hypersensitive sites, open chromatin) and its role in gene regulation. Finally, students will look at current NHS guidelines regarding data storage and access and explore this in the context of genomic data

Aims and Objectives

Learning Outcomes

Learning Outcomes

Having successfully completed this module you will be able to:

  • Discuss the human genome structure and the properties of DNA
  • Identify and discuss ethical, legal and social issues (ELSi) that apply to medical genomics, including consent and confidentiality, the management of genomic results and sharing information at the research/clinical interface
  • Critique genome architecture and its variation across human populations
  • Critically evaluate the regulation of gene expression, transcription and translation
  • Appraise and interpret variation in genome structure and sequence in the context of physiological function and disease
  • Discuss and analyse epigenetic modifications and imprinting and its role in disease
  • Discuss and evaluate the Genomics England Programme and the Data Infrastructure
  • Discuss and justify the ethical and governance frameworks in place within the NHS and how they apply to medical genomics including patient safety, data sharing and confidentiality
  • Identify the range, purposes, benefits and potential risks of sharing, integrating and aggregating clinical data and information.
  • Describe and evaluate the purpose, structures, use and storage of health records


Architecture of the human genome and genetic variation within it DNA sequence variation, type and frequency e.g. single nucleotide variants, small insertions and deletions, copy number variation, rearrangements and tandem repeats How variation arises and its extent in populations (e.g. HapMap) Gene regulation: enhancers, promoters, transcription factors, silencers Epigenetics and imprinting Mutational mechanisms: how different types of DNA variants affect gene function or expression to cause disease; correlation of genotype with phenotype Concepts of heterogeneity and pleiotropy Modes of inheritance for clinical manifestation of human variation Legislation, Codes of Practise, Caldicott Guardian and Information Commissioner Patient identifiable data and information, relationship between data and information Information system risks to patient safety, electronic and paper copies, safe havens, encryption, secondary uses of data, audit and research Secure information exchange between professionals Sharing and communication with patients and careers, consent Handling requests for information about patients /clients.

Learning and Teaching

Teaching and learning methods

The module will comprise two blocks of two days' intensive on-site teaching, each followed by approximately six weeks of independent study. A variety of learning and teaching methods will be adopted to promote a wide range of skills and meet the differing learning styles of the group. The on-site teaching will include seminars, practical demonstrations, discussions and exercises surrounding interpretation of data and clinical scenarios, and specialist lectures given by a range of academic and health care professionals. This will ensure a breadth and depth of perspective, giving a good balance between background theories and principles and practical experience. Off-site independent learning will take place on the virtual learning environment hosted by the UoS and mounted on Blackboard.

Independent Study122
Total study time150

Resources & Reading list

• Additional specific resources will be posted on the module’s Blackboard site. 

• Little, PFR. (2005). Structure and function of the human genome. Genome Res. ,15 , pp. 1759-1766.

•. Genetics & Genomics in Medicine: Strachan, Goodship and Chinnery. 

•. New Clinical Genetics: Read and Donnai. 


Assessment Strategy

The assessment for the module provides you with the opportunity to demonstrate achievement of the learning outcomes. There will be two components to the assessment i) 1500 word written assignment 1, and ii) 1500 word written assignment 2. The pass mark for the module and all assessed components is 50%. If you do not achieve the pass mark on this module by achieving 50% or more in all components, you may still pass by compensation. To do this, you must achieve a qualifying mark of 40% in each of the assessed components. Each of the component marks is then combined, using the appropriate weighting, to give an overall mark for the module. If this overall mark is greater than or equal to 50% you will have passed the module. If your overall mark is less than 50% when the weighting has been applied to the components, you will have failed the module. If you have not achieved 40% or more on all components, you cannot use compensation and have failed the module. If you have failed the module, you will have the opportunity to submit work at the next referral (re-sit) opportunity using the method outlined below. You must achieve the pass mark in all referred components. On passing your referrals, your final module mark will be capped at 50%.


MethodPercentage contribution
Written assignment  (1500 words) 50%
Written assignment  (1500 words) 50%


MethodPercentage contribution
Written assignment  (2500 words) 100%

Repeat Information

Repeat type: Internal & External

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