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

Work and teaching methods include lectures, laboratory courses, including skills training in the form of lab exercises, seminars, group work (study groups/PBL) and self-study.

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

• minimum attendance of 80% at laboratory courses
• minimum attendance of 80% at seminars
• three individual lab reports based on specified criteria.

Supervised individual written exam, 4 hours

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

A handheld calculator that cannot be used for wireless communication or to perform symbolic calculations. If the calculator’s internal memory can store data, the memory must be deleted before the exam. Random checks may be carried out.

Grade scale A-F.

An external examiner contributes to preparing assignments and assessment criteria. All papers will be assessed by two examiners, one of whom must be external.

10 credits overlap with MABIO4400 Genomic Analysis.