INTRODUCTION TO OMICS SCIENCES IN THE DIAGNOSTIC FIELD

Academic Year 2025/2026 - Teacher: MICHELE MASSIMINO

Expected Learning Outcomes

The student will acquire both theoretical and practical knowledge related to the use of -omic methodologies (genetic sequencing) in diagnostic settings, with a focus on molecular profiling of oncological diseases in precision oncology, precision diagnostics, and targeted therapy, including liquid biopsy, with particular emphasis on Circulating Tumor Cells (CTCs) and their molecular characterization at the single-cell level (single-cell analysis). The student will be guided in using the most common databases for clinical variant classification, using bioinformatic tools for annotating clinical variants, and analyzing sequencing reads through the use of Integrative Genomics Viewer (IGV). The student will gain both methodological foundations and the correct decision-making approach for selecting specific methodologies according to the diagnostic objective.

Course Structure

Classroom lesson

Required Prerequisites

Knowledge of molecular and cellular biology

Attendance of Lessons

As required by the University regulations

Detailed Course Content

Precision medicine: Introduction, biomarkers and targeted therapy

Advanced molecular diagnostics: Introduction and role in precision medicine/oncology

-omic sciences: Introduction and application in advanced molecular diagnostics

-omic approaches: NGS, RNAseq, single-cell sequencing

Liquid biopsy: cfDNA and CTCs

Use of the main databases for the interpretation of clinical variants

Use of bioinformatics tools for BAM files analysis and classification of clinical variants with uncertain or unknown interpretation

Generation of a workflow NGS- based for molecular diagnostics

Generation and interpretation of a report associated with a molecular profile

Theoretical/practical approaches on the molecular analysis of clinical cases organized in groups

Textbook Information

Material provided by teacher

Course Planning

	Subjects	Text References
1		Material provided by teacher

Learning Assessment

Learning Assessment Procedures

Oral exam

Examples of frequently asked questions and / or exercises

Omics Sciences

Advantages of liquid biopsy

NGS technology

Gene panels

Clinical variant annotation and calling

Bioinformatics tools for clinical variant analysis

How to generate a molecular profiling report

VERSIONE IN ITALIANO

Degree Course in

Biology