Principles of Genetics & Genomics

Learning Outcomes

Learning Outcomes

Having successfully completed this module you will be able to:

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

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

This 10-credit module will be taught over two blocks of teaching days, separated by a period 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.

Formative

This is how we’ll give you feedback as you are learning. It is not a formal test or exam.

Written assignment

• Assessment Type: Formative
• Feedback:
• Final Assessment: No
• Group Work: No

Summative

This is how we’ll formally assess what you have learned in this module.

Referral

This is how we’ll assess you if you don’t meet the criteria to pass this module.

Repeat

An internal repeat is where you take all of your modules again, including any you passed. An external repeat is where you only re-take the modules you failed.