MABIO4400 Genomic Analysis Course description

The course discusses theoretical and practical aspects of modern DNS technology applied to detect genetic variation in the human genome (DNS), including NGS (Next Generation Sequencing) methods. It focuses on normal variation and variation in connection 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 with basic bio informatics tools for the analysis of DNA, RNA, and amino acids sequence data. The bioinformatics part also provides an introduction to the analysis of NGS data, including with the aid of RStudio.

The student must have been admitted to the study programme.

After completing the course, the student is expected to have achieved the following learning outcomes defined in terms of knowledge, skills and competence

Knowledge

The student has

• in-depth knowledge of structural and molecular variation, such as sequence, length, and copy number variation, and mechanisms leading to genetic variation
• advanced knowledge of genetic variation that can lead to disease
• in-depth knowledge of screening methods that are used in medical genetics and high-throughput methods used for molecular genetic research
• advanced knowledge of the principles behind methods and their areas of application
• specialised insight into the areas of application for selected bioinformatics tools for DNA and RNA analyses.

Skills

The student is capable of

• carrying out independent basic analyses using the PCR technique, DNA sequencing, fragment analysis and qPCR
• independently assessing the suitability of methods and using this in the development of diagnostic methods
• understanding and interpreting quantitative qPCR results in an independent manner
• using basic bioinformatics tools in the development of methods and analysis of NGS data

Competence

The student is capable of

• familiarising him/herself with and taking a critical approach to new methods and apparatuses used in biomedicine (including NGS platforms), with a view to their areas of application, possibilities, and limitations

Work and teaching methods include lectures, seminars, laboratory courses, group work and self-study.

The following required coursework must be approved before the student can take the exam:

• minimum attendance of 80% at the laboratory course
• minimum attendance of 80% at seminars
• approx. three written laboratory reports in accordance with specified criteria

Exam content: The learning outcomes

Exam form: Individual written exam, 4 hours

None

Grade scale A-F

An external and internal examiner will assess all exams