Genome Analysis, 6 credits

Main field of study

Course level

Advancement level

Course offered for

• Chemical Biology, M Sc in Engineering
• Engineering Biology, M Sc in Engineering

Entry requirements

Note: Admission requirements for non-programme students usually also include admission requirements for the programme and threshold requirements for progression within the programme, or corresponding.

Prerequisites

Intended learning outcomes

In this course the student will acquire advanced theoretical and methodological knowledge in genome analysis as well as molecular mechanisms involved in monogenic and polygenic traits and diseases. In a project laboratory work the student study the strategies for disease gene identification with advanced genetic laboratory methods, bioinformatics and interpretation of results. The student will also obtain knowledge in molecular epidemiology and how genetic variation in populations influence genetic predisposition for disease. By the end of the course the student will be able to:

Knowledge and understanding
- Comprehend and integrate the knowledge on molecular mechanisms involved in monogenic and polygenic traits to understand the genetic basis of diseases
- Describe the interplay between genetic and environmental factors
- Explain how concepts of genetic variation in populations are affecting evolution and population genetics
- Identify strategies and explain the theoretical basis of molecular genetics methodology to be able to identify disease genes

Competence and skills
- Demonstrate how calculation of genetic association and risk is performed
- Apply computer-based methods to be able to identify disease genes
- Practically perform and explain selected molecular genetics methodology for gene identification

Judgement and approach
- Interpret experimental results and evaluate genetic association studies and risk calculations
- Present, evaluate and communicate pros and cons of molecular genetics methods
- Summarise and assess scientific literature within medical genetics

Course content

Molecular mechanisms involved in monogenic and polygenic traits and diseases
Disease gene identification
How environmental factors influence the genome and affects expression
Genetic variation in populations and its influence on genetic predisposition, including molecular/genetic epidemiology
Calculation of allele frequencies, associations and risk
Principles of major molecular genetic laboratory methods and interpretation of results, hands-on knowledge of selected methodology
Seminars on selected scientific papers

Teaching and working methods

The course applies student-centered learning among which Problem Based Learning (PBL) is one pedagogical philosophy and method. The PBL design of the course emphasises the student´s development of free, self-supporting, lifelong learning as an instrument for critical inquiry. The students are also encouraged to take responsibility for her/his own learning, and to seek and evaluate information and knowledge and to train co-operation and a flexible attitude to different views and ideas. The educational methods include lectures, tutorial groups, seminars, demonstrations and laboratory work.

Examination

Grades

Department

Director of Studies or equivalent

Examiner

Education components

Course literature

Additional literature

Books

• Strachan, Tom & Read, Andrew P, (2010) Human Molecular Genetics 4th ed

Articles