General provisions

This course is given within the Master's programme in precision medicine (MPM2M).

Entry requirements

180 credits, from an internationally recognised university. The degree must be in biochemistry/chemistry, biology, biomedicine/medicine, biotechnology, bioinformatics, cell-/molecular biology, genetics, life science, medical sciences, pharmacy, or a similar field of study. Also required are courses in human genetics, cell biology and molecular biology totaling 30 credits including knowledge corresponding to Medical genetics and cancer - molecular mechanisms (3MG022 or 3MG030).

Learning outcomes

Knowledge and understanding

On completing the course, the student shall demonstrate the ability to:

* Explain fundamental concepts and technologies in large-scale sequencing.

* Describe how these technologies are used in the emergence, development, and diagnosis of genetic diseases, including cancer.

* Outline the different steps involved in a clinically applied genetic analysis, including bioinformatics.

* Discuss the implications of laws and regulations governing the use of sensitive human data.

* Provide examples of quality requirements in clinical diagnostics.

Competence and skills

On completing the course, the student shall demonstrate the ability to:

* Utilize basic computer-based programs for the analysis of large-scale sequence data.

* Use secure systems for the analysis and storage of sensitive large-scale sequence data.

* Ensure that the sequence data meets the expected quality standards and is suitable for further analysis.

* Analyze, process, and formulate scientific questions within the subject area.

Judgement and approach

On completing the course, the student shall demonstrate the ability to:

* Discuss current research in the field and how the new knowledge may be applied clinically in healthcare.

* Evaluate whether the data used in the analysis is reliably produced and analyzed.

* Apply an ethical and scientific approach.

Content

The course aims to provide a broad perspective on various methods and their applications in precision diagnostics based on genomic techniques. It covers fundamental concepts and technologies for DNA and RNA mapping, including but not limited to sequencing-based technologies. The course provides insight into when and how different methods are used and the expected results. It also offers an overview of the current use of these methods in research and future clinical applications.

Knowledge of laboratory procedures, data analysis, and quality control is included. Theoretical components are complemented by computer-based exercises that encompass all steps from raw data to the identification of causal genetic variations. The exercises include an introduction to large-scale computing environments for sensitive data.

The course presents techniques for detecting various types of genetic variations and complex biomarkers based on genetic variation. It also explores how variation can be interpreted in relation to clinical phenotypes, ethnicity, and more.

Seminars with active researchers and clinically practicing personnel will provide opportunities to discuss challenges and potential advancements in precision diagnostics. Group discussions and presentations of relevant articles will provide in-depth insights into the application of these techniques.

Instruction

Instruction is given in English in the form of lectures and mandatory seminars, computer exercises as well as other theoretical and practical elements such as problem-based exercises and presentations related to current research fields.

Assessment

Modes of assessment

Written exam, computer labs, assignments, presentations and seminars.

Exceptions to modes of assessment

If there are special reasons for doing so, an examiner may make an exception from the method of assessment indicated and allow a student to be assessed by another method. An example of special reasons might be a certificate regarding special pedagogical support from the University's disability coordinator.

Requirements for a passing grade.

Passing the course requires passing results in written examinations, laboratories, assignments, presentations and seminars, as well as passing participation in the mandatory elements.