EPN-V2

MABIO4400 Genomic Analysis Course description

Course name in Norwegian
Genomisk analyse
Weight
15.0 ECTS
Year of study
2021/2022
Course history
  • Introduction

    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.

  • Required preliminary courses

    The student must have been admitted to the study programme.

  • Learning outcomes

    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
  • Teaching and learning methods

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

  • Course requirements

    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
  • Assessment

    Exam content: The learning outcomes

    Exam form: Individual written exam, 4 hours

  • Permitted exam materials and equipment

    None

  • Grading scale

    Grade scale A-F

  • Examiners

    An external and internal examiner will assess all exams