General Unit Information

The use of genome scale data in clinical applications is rapidly increasing. You will develop expertise in the use of software applications for the calling of genome sequence variants. You will learn how to interpret these variants including examining their presence in population datasets and clinical registries.

You will learn about population stratification and ancestry and how it applies to the interpretation of genome sequences, and the use of genomics in precision medicine.

You will also discuss the ethical issues associated with personal genomes and the requirements for laboratory accreditation, and guidelines for variant classification and reporting.

Learning outcomes

On successful completion of this unit, you should able to:

1. Interpret and classify genetic variants and understand their significance among different populations;
2. Outline the current guidelines and accreditation within the genome analysis industry;
3. Analyse genome data to identify causative variants using current software and databases;
4. Formulate variant reports suitable for clinical use and consistent with guidelines;
5. Demonstrate understanding of the ethical issues surrounding genome analysis and datasets and the necessity for informed consent.

Specific Unit Information