Cancer Genomics

Learning Outcomes

Learning Outcomes

Having successfully completed this module you will be able to:

• Apply basic bioinformatics skills and statistical knowledge to assess data quality of and analyse cancer DNA sequencing data.
• Explain how genetic aberrations in the form of SNVs, INDELS and CNAs contribute to cancer pathogenesis.
• Describe how the human genome is structured and genes are expressed and discuss how epigenetics contributes to gene regulation.
• Critically evaluate high throughput sequencing technologies and justify a choice of technique for a posed scenario.
• Utilise genome browsers and variant databases to interpret cancer variants and predict pathogenicity and clinical significance.

This module will outline the major topics in human genetics, cancer genetics and the high throughput sequencing technologies used to interrogate them. This module is split into the main themes of human genetics, cancer genetics and applied genomics technologies.

Specific topics included in the module are:

• Human genome structure and organisation
• Somatic single nucleotide variants, INDELs and copy number variants
• Mutation mechanisms and signatures
• Short read high throughput sequencing technologies
• Long read sequencing technologies
• Bioinformatics
• Databases and resources for cancer genomics
• Downstream functional analysis
• Cancer evolution

Teaching and learning methods

The module will comprise directed teaching and practical workshops interspersed with periods 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 teaching will include seminars, practical demonstrations, discussions and exercises surrounding fundamental concepts in cancer genomics with specialist lectures given by a range of academic and health care professionals. Practical workshops will develop basic bioinformatics and computational skills in a user friendly environment. 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.

Formative

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

Workshop activities

• Assessment Type: Formative
• Feedback:
• Final Assessment:
• 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.