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The University of Southampton

MEDI6240 Principles of Genetics & Genomics

Module Overview

During the module students will review the architecture of the human genome, including both coding and non-coding elements, and the regulation of gene expression. Students will then explore the nature of genetic variation within the human genome, how it arises, and how it contributes to human disease. The principles and practice of medical genetics, and the management and treatment of probands and their families will be discussed and the role of genomics in a care pathway will be examined. Modes of inheritance and clinical presentation of human disorders will be introduced. Students will develop skills in using genome browsers, genome variant databases and in silico tools for the assessment of the impact of genetic variants on clinical phenotype. The students will receive a basic introduction to exome, genome and gene panel sequencing and their applications in clinical medicine.

Aims and Objectives

Learning Outcomes

Learning Outcomes

Having successfully completed this module you will be able to:

  • Interpret variation in human genome structure and sequence across human populations and in common and rare disease and cancer
  • Assess different genetic mechanisms of pathogenicity
  • Analyse epigenetic modifications, imprinting and chromatin conformation and their role in common and rare disease and cancer.
  • Critically evaluate the application of modern and traditional techniques for interrogating genomic variation in the clinical setting.
  • Interrogate genome browsers and genome variant databases to extract information relevant to the interpretation of genomic variation.
  • Identify and explore current challenges that apply to human genomics in the research and clinical settings


The structure and function of coding and non-coding elements of the human genome Regulation of gene expression, including alternative splicing, epigenetics and imprinting The nature of genetic variation within the human genome and mechanisms through which variation arises The functional impact of specific genetic variants, with a focus on their contribution to human disease Modes of inheritance for clinical manifestation of human variation Exploitation of genome browsers, genome variant databases and in silico tools for the assessment of the impact of genetic variants on clinical phenotype

Learning and Teaching

Teaching and learning methods

This 10-credit module will be taught over blocks of teaching days, each separated by periods of independent learning. 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. Teaching days will consist of a mixture of lectures, and practical sessions including problem solving sessions, journal clubs with discussion, computer practical sessions and case study analyses. Lectures will be provided by clinical and academic colleagues. There will also be assessed presentations with student discussion. Off-site independent learning will take place on the virtual learning environment hosted by the UoS and mounted on Blackboard.

Independent Study165
Total study time200


Assessment Strategy

The assessment for the module provides you with the opportunity to demonstrate achievement of the learning outcomes. In addition to the summative assessments, during the course of the module there will be opportunities to obtain feedback in the form of unassessed, formative activities.




MethodPercentage contribution
Academic poster 40%
Written assignment  (1500 words) 60%


MethodPercentage contribution
Written assignment  (2500 words) 100%

Repeat Information

Repeat type: Internal & External

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