SBIB10170U Mammalian Genomics

Volume 2020/2021
Education

BSc Programme in Biology
BSc Programme in Biotechnology

 

Content

The course is an advanced course in theoretical and practical genomics with focus on mammals. The course will provide information that will allow the student to gain knowledge on methods and technologies currently used to dissect, describe and characterize complex genomes. Aspects of both research and application within the field of genomics will be addressed.


* The theoretical part of the course will cover the following topics:

1) Animal models & Comparative genomics
2) Organization and content of the mammalian genome
3) Human genetic variation
4) Genetic mapping of mendelian characters
5) Mapping genes conferring susceptibility to complex diseases
6) Gene expression. Epigenetics
7) Sequencing genomes: techniques, challenges and bioinformatic analysis
8) Molecular pathology/Cancer/Pharmacogenetics
9) Genetic testing of individuals
10) Genetic manipulation of cells and animals. Gene therapy. Stem cells
11) Biomarkers. i.e. MicroRNAs

* Virtual-lab exercises (computer work): Labster and UCSC browser sessions will be held during the course.

*Quizzes and cases.


* The practical part of the course will contain:
1) Genetic testing/paternity testing/DNA forensics (lecture/lab work)
2) RNA isolation /qPCR (lab work/journal club)

More information on the course content will be given at the beginning of the course.

Learning Outcome

After completion of the course the student is expected to have:

Knowledge:

- Describe the architecture and components of an average mammalian genome.
- Understand the possibilities of analyzing and characterizing mammalian genomes.
- Understand qualitative and quantitative genetics with focus on mammalian disease genetics.
- Describe the technologies and methods involved in the genomics area.
- Understand how comparative genomics can be used in the characterization and annotation of genomes by transferring genomic information from one species to another.
- Understand the regulation of gene expression at different levels and techniques to study it. Focus on qPCR.

- Understand NGS techniques
- Understand how mutations can cause inherited defects and predisposition to disease such as cancer and the possibilities and relevance of genetic testing.

- Understand how to manipulate genes in cells and organisms. The use of stem cells in research.


Skills:

- Use of basic and advanced methods in molecular genetics and biology.
- Perform DNA sequence analysis, simple sequence assembly and annotation and detect sequence variation by using the UCSC browser.
- Perform genetic testing.
- Perform qPCR and analyse expression profiles of genes in different tissues.

Competences:

- Evaluation of strategies to dissect the genetics underlying inherited traits in mammals.

-Evaluation of strategies to mannipulate mammal cells.


- Evaluate the practical use of genetic testing.
 

Information about teaching material will be available at Absalon before the course starts

Basic knowledge in Genetics, Cell Biology and Molecular Biology
Lectures of the book chapters by internal teachers
Lectures in relevant topics by external teachers
Theoretical exercices during lectures
Computer exercise: learning to use UCSC browser
Virtual lab case (Labster-case) on gene expression
Laboratory exercises
Quizzes
  • Category
  • Hours
  • Lectures
  • 43
  • Preparation
  • 117,5
  • Theory exercises
  • 12
  • Practical exercises
  • 20
  • E-Learning
  • 5
  • Project work
  • 10
  • Exam
  • 0,5
  • Total
  • 208,0
Written
Oral
Individual
Continuous feedback during the course of the semester
Credit
7,5 ECTS
Type of assessment
Oral examination, 20 minutes
The 20 min. oral examination is based on the practical laboratory work and on the curriculum.

The student should show adequate knowledge and understanding of both practical and curriculum related subjects in order to pass the exam.

There is no time for preparation after the student has drawn the subjects for the exam

Weight: Oral examination 100 %.
Exam registration requirements

An approved written report about the laboratory practicals is pre-requisite for access to oral examination and/or re-examination.

Aid
Only certain aids allowed

The students can bring their own hand/printed notes (no computer/tablet is allowded)

 

Marking scale
7-point grading scale
Censorship form
No external censorship
2 examinators
Exam period

Week  25. The exact days will be anounced at the beginning of the course.

Re-exam

An approved written report about the practicals is pre-requisite for access to oral re-examination.

Criteria for exam assesment

To achieve the maximum grade of 12, the shall be able to:

Knowledge:

- Describe the architecture and components of an average mammalian genome.
- Understand the possibilities of analyzing and characterizing mammalian genomes, and to understand qualitative and quantitative genetics with focus on mammalian disease genetics.
- Describe the technologies and methods involved in the genomics area.
- Understand how comparative genomics can be used in the characterization of genomes by transfering genomic information from one species to another.
- Understand the regulation of gene expression at different levels and which techniques to apply to study it. Special focus on NGS and qPCR.
- Understand how mutations can cause inherited defects and predisposition to disease such as cancer and the possibilities and relevance of genetic testing in this context.
 

Skills:

- Knowledge on how to perfom basic and advanced methods in molecular genetics.
- Knowledge on how to perfom DNA sequence analysis, simple sequence assembly and annotation and detect sequence variation by using the UCSC browser.
- Knowledge on how to perfom genetic/parentage testing.
- Knowledge on how to perfom qPCR and analyse expression profiles of genes in different tissues.


Competences:

- Evaluation of strategies to dissect the genetics underlying inherited traits in mammals.

-Evaluation of strategies to mannipulate mammalian cells.
- Evaluate the practical use of genetic/parentage testing.

In order to complete the course with the grade 12, the student should give an excellent performance during the exam displaying a high level of command of all aspects of the drawn practical and theoretical subjects of the curriculum. The student should show an exhaustive comprehension of all the matters/principles asked during the exam with no or only few minor mistakes/weaknesses, and he/she should be able to integrate knowledge from different subjects and areas when relevant.