78788 - GENOMICA E MEDICINA PERSONALIZZATA

Learning outcomes

Students will know the organization of eukaryotic genomes, and will receive basic and advanced knowledge on the high throughput nucleic acids sequencing technologies. Students will learn the application of genomic enquiries for the personalization of therapeutical intervention to patients based on their genomic characteristics. Moreover, students will know the organization of major public genomic databases, and how to retrive and analyze data from genomic- and post-genomic databases.

Course contents

Genome analysis methods: Major and more recent sequencing platforms. Application of sequencing technologies to the reconstruction of the eukaryotic genome, to the analysis of genome variation in different individuals and populations, to the reconstruction and analysis of the transcriptome, for mapping interactions between genomic DNA and proteins, for the identification of epigenetic modifications (e.g. cytosine methylation), for the identification of long-range interactions between genomic loci.

Applications: molecular diagnosis, association between genome and diagnosis/prognosis, genome-wide association studies, quantitative traits, strategies for the personalisation of therapies based on individual genomic characteristics 

Laboratory module. The practical part of the course will consist of exercises on the use of the UCSC genome browser to lear how to access and analyze the stored data, and on the use of the web-server Galaxy for the analysis of sequencing data.

Readings/Bibliography

Articles and reviews indicated by the teacher.

Teaching methods

Lectures and PC work assignments. Practical use of UCSC genome browser and of Galaxy for accessing and analyzing genomic data. Reading, presentation and discussion of scientific papers provided by the teacher

Assessment methods

The exam will assess if the student knows the organization of eukaryotic genomes, the genomic analysis techniques and their application to medicine and pharmacology. The exam will also assess if the student knows how to access UCSC Genome database, and how to retrieve and analyze genomic data using the UCSC genome browser and Galaxy.

At the end of the course, the student will independently analyse real sequencing data, with the aim of finding and characterising genomic variants. The student is requested to write a report on this project, which will be evacuated by the teacher and assigned a score (maximum score is 30/30). An optional oral exam could be done to clarify some aspects of the report and improve the evaluation.

Teaching tools

PC, internet, videoprojector, board.

Bioinformatic laboratory at the Biotecnology Education Center at "Navile".

Office hours

See the website of Fabrizio Ferrè