Clinical Omics and Bioinformatics , 7.5 credits

Contents

This advanced-level course introduces students to clinical applications of omics technologies and bioinformatics analyses. The course focuses on molecular diagnostics, variant interpretation, personalized medicine, and data analysis workflows used in the clinical settings. Students will engage in practical sessions and gain hands-on experience in interpreting omics data for clinical decision-making.

The course covers: hereditary disease investigation, variant screening and diagnostic interpretation, tumor classification, and therapy selection using sequencing- and array-based technologies (e.g., genomics, transcriptomics, epigenomics) and clinical bioinformatic workflows and tools. The course also includes lectures on different disease categories, regulations, and ethical aspects.
Theory (1.5 hp)

Reports and Seminars (6.0 hp)

Expected learning outcomes

Knowledge and understanding

Students must be able to:

1. Demonstrate knowledge of molecular and omics-based techniques used in clinical diagnostics and treatment selection.
2. Explain the principles of variant interpretation including SNVs, CNVs, SVs, and epigenetic analysis.
3. Describe the regulatory and ethical frameworks relevant to clinical bioinformatics.

*Skills and ability*

Students must be able to:

1. Apply bioinformatics workflows and tools to analyze clinical omics data.
2. Annotate and interpret genetic variants using appropriate databases and correct nomenclature.
3. Perform gene expression and epigenetic data analysis and interpret results.
4. Communicate findings effectively through clinical reporting and presentations.

*Judgement and approach*

Students must be able to:

1. Critically evaluate the quality and relevance of omics data in clinical decision-making.
2. Reflect on ethical considerations and patient privacy in clinical bioinformatics.
3. Demonstrate a professional approach to data management, visualization, and reporting in clinical settings.

Required Knowledge

Admission to the course requires at least 90 completed credits in the areas of biology, biomedicine, molecular biology, molecular ecology, molecular evolution, genetics or other related subjects. Of these, at least 7.5 credits must be in bioinformatics and 15 credits must be in molecular biology, molecular ecology or molecular evolution, 7.5 credits in biochemistry, chemistry, mathematics or statistics, 7.5 credits in genetics and 15 credits at advanced level in bioinformatics or related areas. English 6/level 2.

Form of instruction

This on-campus course consists of: (i) lectures and readings, which cover theory and background material; (ii) practical hands-on sessions, where students analyze clinically relevant data, interpret results, and submit reports, and (iii) seminars, where students discuss the practical sessions and their reports in groups. The mandatory components are the course introduction lecture, hands-on sessions with reporting, and the seminars. Students will need access to a computer, which can access the internet (data analysis will be carried out via a remote server/high-performance computing cluster).

Examination modes

The course is individually examined through the individually written reports submitted after each practical session and through active participation in the seminar discussions. Each report followed by a seminar is given a combined grade of G (Pass) or U (Fail). Clinical omics and bioinformatics in theory, including ethics and regulatory frameworks, will be individually examined by a written on-site exam, graded G (Pass) or U (Fail). To pass the course, all the mandatory parts of the course are to be passed with a grade G. For examination on the higher grade (VG), students must give individual presentations on topics chosen together with the course leaders. For the optional pass with distinction, (VG), students must pass all the compulsory parts and the chosen presentation. For missed examination or failed grade on mandatory parts, time for re-examination and follow-up examination will be provided.

The examiner may decide to deviate from the form of examination specified in the syllabus. Individual adaptation of the examination format shall be considered based on the student’s needs. The examination format is to be adapted within the framework of the intended learning outcomes of the course. A student who requires an adapted examination, and who has received a decision regarding the right to support from the coordinator for students with disabilities at the Student Services Office, must request the adaptation from the course‑responsible department no later than 10 working days before the examination. The examiner decides on the adapted examination, and the decision is then communicated to the student.