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

Students must have been admitted to the Master’s Programme in Health and Technology - Specialisation in Biomedicine.

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.

The work and teaching methods used include lectures, seminars with exercises, and skills training in the form of laboratory assignments. Digital learning resources will be made available to the students.

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

• an assignment in groups of 2-4 students in the form of a case study with an oral presentation
• two laboratory projects with the submission of two lab reports based on specified criteria. The projects are carried out in groups of 2-4 students.

If the course is taught in English, the oral presentation of the case study must be given in English.

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 acquire advanced knowledge in the subject area of the master’s thesis from relevant research and specialist literature
• can explain the theoretical basis for the topic of the master’s thesis and for the methods included in the work
• can critically evaluate previous research, existing theory and methods that form the basis for the research questions in the master’s thesis
• can assess previous research as a basis for critically evaluating their own results

Skills

The student

• can develop a project description for the master’s degree project under supervision and in line with research methods
• can carry out an independent, limited research or development project under supervision and in accordance with applicable standards of research ethics
• can explore methods, processes, calculations, analyses and examinations of relevance to the master’s thesis in an independent manner
• can quality assure their own work
• can present results in a scientific manner and discuss these in relation to previous research

General competence

The student

• can apply research methods to new and unknown disciplines and formulate new research questions
• can carry out critical analyses of and combine knowledge from different sources
• can disseminate an extensive independent work, both orally and in writing, in accordance with applicable conventions for scientific reporting
• can convey research results in both scientific and popular science form
• can identify and discuss ethical issues in research in accordance with applicable laws and international conventions

The thesis can be written individually or in groups of two students.

The students are required to draw up a project description with an associated progress plan. All project descriptions must be approved by the course coordinator within the given deadlines.

Each student or group of students will be assigned a supervisor for the master’s project. The supervisor may be internal or external to the organisation. Up to 25 hours of supervision is normally available per project. The scope will depend on the subject area and working methods concerned. The supervision is intended to ensure satisfactory work progress and quality. After the project description has been approved by the course coordinator, the student/group of students, main supervisor and any co-supervisors will enter into an agreement that regulates responsibilities and rights issues, time frames and availability. When a group of students work together, the thesis must include an appendix that documents each student’s contribution.

Students meet for seminars during the period they are working on the master’s thesis. The seminars give them an opportunity to share experience from their own project work. Students will take part in academic discussion and practise structuring and wording academic reasoning and convey constructive criticism. Presenting their work and receiving feedback from fellow students and teachers are important parts of the seminars. The seminars will be held digitally or through physical attendance on campus.

Detailed guidelines for the master’s thesis will be published on OsloMet’s learning platform.

Grade scale A-F.

All papers will be assessed by two examiners, one of whom must be external.