Applications of Genomics

Semester

1st Semester

ECTS

6

Course Coordinators

A. Giakountis

Professors

A. Giakountis, Mathiopoulos K., Karpouzas D., Papadopoulou K., Sarafidou T.

Learning Outcomes

The science of Genomics refers to a specialized branch of Molecular Biology that studies in a holistic way the structure, organization, and function of the genome. The introduction of the term “genomics” in the 1980s coincided with the development of large-scale sequencing technologies. Going through the postgenomic era, the course aims to educate students in the most modern applications of Genomics in a wide range of organisms with diagnostic interest. The ultimate goal is to create competitive bioscientists with specialized knowledge regarding the structure, organization, and function of the genome along the evolutionary scale, alongside with training in modern applications with diagnostic interest in health and agri-nutrition.

Upon completion of the course, students are expected to:

  • know the operating principles and technical characteristics of the main sequencing technologies,
  • become familiar with the working principle of sequencing and comparative metagenomic analysis in prokaryotes, insects, plants, animals, and humans, as a means for the development of innovative applications,
  • become introduced to the basic principles and concepts of individual cell sequencing and its interconnection with the diagnosis of complex diseases.

Course Content

The section includes

  • Next generation sequencing techniques: principles of operation of small and large reads sequencing techniques, construction, quality control and meta-analysis of NGS libraries, applications in basic and applied research
  • Genome Analysis of Microorganisms: concept and basic principles of metagenomic analysis, examples of genomic analyses in microorganisms-models, genomic evolution of microorganisms, and applications
  • Insect Genome Analysis: analysis of the genome in the genome of insects, evolutionary relationships at the level of chromosomes or the whole genome, intervention in the genome, and applications in humans and the environment
  • Plant Genome Analysis: variability in plant genome structure and size, de novo plant genome sequencing methodologies, applications in cultivation practice, discovery of new drugs, and development of environmental management strategies
  • Genome Analysis of Animal Organisms, Genome Co-evolution Studies and Their Potential Role in Animal Adaptation, Genomic Analysis and Genetic Improvement of Farmed Animals, Characterization of Indigenous Breed Genomes and Conservation Biology, Improvement of Animal Welfare and Health
  • Human Genome Analysis: Human Genome Sequencing: Brief Historical Review, Strategy, Results (Number of Genes and Traits, Gene Density, Conserved and Non-Conserved Sequences, Complexity of Genetic Information). Genetic Diversity: HapMap and 1000 Genomes Projects
  • Single cell sequencing and diagnostics: cell separation techniques, enhancement of genetic material, barcoding and construction of scSEQ libraries, quality control and scSEQ metaanalysis, examples of single cell RNA-seq in the diagnosis of multifactorial diseases

Student Evaluation

Performance in the course is evaluated based on the individual essay (30%) and the written exam in the theoretical part of the course, administered during the examination period (70%).

The written exam includes:

  • Text-based Questions with Graded Difficulty (70 credits)
  • Questions that require critical thinking for solving problems in real experimental data (30 credits)

For students with learning difficulties, there is a provision for a mixed written/oral examination in all parts of the course. The total number of correct answers corresponds to 100 points, which are reduced to 10 points.  Based on this reduction, the grade of each student in the theoretical examination of the course is calculated. This grade accounts for 70% of the total course grade.

Recommended Bibliography

  • Introduction to Genomics and Systems Biology, Arthur Lesk, Second Edition, Utopia University Publications, ISBN 978-618-5173-18-0)
  • Genomes – modern research approaches, Brown T. A. (ISBN 9603998563)
  • RECOMBINANT DNA, James D. Watson et al. (ISBN 978-960-88412-5-3)

Related scientific journals:

  • Cell
  • Nature
  • Science
  • Nature Communications
  • Nature Reviews
  • Genome Research
  • Genomics
  • Genome Medicine
  • NAR
  • PNAS