Genetica e genomica umana con elementi di bioinformatica

The course focuses on understanding the organization and regulation of the human genome, as well
as the molecular mechanisms that lead to the phenotypic expression of genetic information. It
includes an in-depth study of genome structure and disease-causing genetic variations. Students
will explore the fundamentals of heredity and the genetic mechanisms underlying both Mendelian
and non-Mendelian diseases. The course will provide a solid foundation in the theoretical and
conceptual aspects of human molecular genetics and genomics. Additionally, students will gain the
theoretical and methodological skills necessary to apply proper study methods in the field of
molecular genetics.
The course "Elements of Bioinformatics" aims to provide students with the skills to query and analyze
human genomics databases, browsers, and portals. It introduces the basics of using the R
environment for genomic data analysis and explains the principles behind bioinformatic approaches
applied in human genomics.

Students will acquire the ability to:
- Describe the structure and features of the human genome.
- Describe next-generation techniques used in genomics.
- Discuss the genetic and phenotypic characteristics of genetic diseases and traits.
- Use theoretical and methodological skills to study genetic diseases.
-Utilize and interpret the content of genomic databases, portals, and browsers.
- Describe the organization and content of common bioinformatics formats.
- Employ the R environment and RStudio for basic genomic analyses.
- Explain the principles of bioinformatic programs for genome analysis.