MABIO4410 Genomic Analysis Course description

The course discusses theoretical and practical aspects of modern DNA technology applied to detect genetic variation in the human genome (DNA), including NGS methods and analysis of NSG data. It provides knowledge about both normal variation and variation relating to predisposition for diseases. The laboratory part comprises a practical introduction to PCR method, DNA sequence analysis, DNA fragment analysis, and quantitative PCR (qPCR, analysis of gene expression). The practical part includes exercises using basic bioinformatics tools (e.g. BLAST) for the analysis of DNA and RNA sequence data. Students will also be introduced to important databases such as GenBank.

Students must have been admitted to the Master’s Programme in Health and Technology - Specialisation in Biomedicine. The course is also offered as an individual course if there are vacant places. The admission requirements are the same as for the specialisation.

After completing the course, the student should have the following learning outcomes defined in terms of knowledge, skills and general competence:

Knowledge

The student

• can demonstrate in-depth knowledge of structural and molecular variation, such as sequence variation, length variation and copy number variation, and mechanisms leading to genetic variation
• can interpret and analyse how genetic variation can lead to disease
• can assess and interpret the results of screening methods used in medical genetics and high-throughput methods (NGS) used for molecular genetic research
• can demonstrate advanced knowledge of the principles behind methods and their areas of application
• can account for and discuss the scope of application for homology analysis tools for DNA and RNA analyses and relevant sequence databases

Skills

The student

• can carry out independent basic analyses using the PCR technique, DNA sequencing, fragment analysis and qPCR
• can independently assess the suitability of methods and apply it to the development of diagnostic methods
• can understand and interpret quantitative qPCR results on an independent basis
• can use basic homology analysis tools for research and method development

General competence

The student

• can take a critical approaching when becoming familiarised with new methods and apparatuses used in biomedicine (including NGS platforms) regarding their areas of application, possibilities and limitations

The course forms a theoretical and practical basis for being able to assess choices and perform molecular analyses of genetic changes in cancer cells, both in diagnostics and research. This comprises advanced immunological, biochemical, cell and molecular biology methods. A selection of these methods are used in the practical work.

Students must have been admitted to the Master’s Programme in Health and Technology - Specialisation in Biomedicine. The course is also offered as an individual course, with the same admission requirements as for the specialisation.

After completing the course, the student should have the following learning outcomes defined in terms of knowledge, skills and general competence:

Knowledge

The student

• can critically assess the choice of material and method for molecular diagnostics
• can account for possibilities and limitations associated with the use of advanced molecular analyses
• can discuss results of molecular analyses against clinical relevance

Skills

The student

• can use and critically interpret results from selected methods in molecular pathology in an independent manner
• can work on the basis of knowledge of their own area of diagnostics and research
• can independently assess the suitability of molecular pathology methods in a clinical context

General competence

The student

• can critically assess relevant molecular pathology methods in biomedical research and diagnostics
• can critically assess, discuss and disseminate advanced research literature
• can help to implement molecular pathology methods in their own field

The course is largely web-based and includes digital lectures, digital group assignments and self-study. The course also comprises a compulsory three-day session at OsloMet that includes skills training in the form of laboratory courses. The group assignments include oral presentations where students receive feedback on their work from fellow students and the lecturer.

The following must have been approved in order for the student to take the exam:

• minimum attendance of 80% at scheduled digital lectures
• minimum attendance of 80% at campus-based session

Individual written home exam over 3 days, 2,000 words (+/- 20%).

The paper can be written in English or a Scandinavian language.

All aids are permitted, as long as the rules for source referencing are complied with.

Grade scale A-F.