Omics in Diagnostics
A.Y. 2025/2026
Learning objectives
The aim of the course is to teach the use of omics technologies in a diagnostic setting.
The course will cover the identification, analysis and applications of different types of biomarkers, focusing mainly on genomics approaches applied to clinical problems and data analysis of real data from clinical genomics laboratories.
The course will cover the identification, analysis and applications of different types of biomarkers, focusing mainly on genomics approaches applied to clinical problems and data analysis of real data from clinical genomics laboratories.
Expected learning outcomes
At the end of the course, students are expected to:
i) understand the clinical question at the basis of omics analyses in a diagnostic setting;
ii) select appropriate laboratory protocols for the clinical problem under analysis;
iii) perform the appropriate data analysis independently.
i) understand the clinical question at the basis of omics analyses in a diagnostic setting;
ii) select appropriate laboratory protocols for the clinical problem under analysis;
iii) perform the appropriate data analysis independently.
Lesson period: First semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course cannot be attended as a single course. Please check our list of single courses to find the ones available for enrolment.
Course syllabus and organization
Single session
Course syllabus
· Human genetic variation and interpretation of genetic variants
· Genetic basis of disease
- Modes of inheritance
- Monogenic diseases
- Multifactorial diseases
· Genome-wide association studies
· Polygenic Risk Scores
· Pharmacogenomics - Targeted therapy
· Genetic analyses for rare diseases
· Prenatal Diagnosis
· Introduction to the concept of clinically useful Biomarkers
· Biological and clinical interpretation of germline genomic variants (of particular relevance)
· Biological and clinical interpretation of somatic genomic variants
· Biological and clinical interpretation of liquid biopsies and other circulating biomarkers
· Future omics biomarkers
· Legal aspects of genomic testing (GDPR)
· Profiling techniques (ISH, immunogenetics, etc.)
· Biomarkers in predictive pathology and translational research
· Principles of biobanking for translational medicine
· Spatial omics in diagnostic pathology
· Artificial Intelligence in pathology
· Genetic basis of disease
- Modes of inheritance
- Monogenic diseases
- Multifactorial diseases
· Genome-wide association studies
· Polygenic Risk Scores
· Pharmacogenomics - Targeted therapy
· Genetic analyses for rare diseases
· Prenatal Diagnosis
· Introduction to the concept of clinically useful Biomarkers
· Biological and clinical interpretation of germline genomic variants (of particular relevance)
· Biological and clinical interpretation of somatic genomic variants
· Biological and clinical interpretation of liquid biopsies and other circulating biomarkers
· Future omics biomarkers
· Legal aspects of genomic testing (GDPR)
· Profiling techniques (ISH, immunogenetics, etc.)
· Biomarkers in predictive pathology and translational research
· Principles of biobanking for translational medicine
· Spatial omics in diagnostic pathology
· Artificial Intelligence in pathology
Prerequisites for admission
Basic knowledge of omics methods, statistics and data analysis.
Teaching methods
Lectures will be accompanied by tutorials. Class discussion will be also organized with presentation of real data form diagnostic laboratories using omics technologies, during which students are required to actively interact. Live discussions and questions during lecture and tutorials are encouraged.
Teaching Resources
Slides and scientific material provided during lectures.
Assessment methods and Criteria
The overall assessment of the students will be based on their performance in an oral examination. Attendance to at least 75% of class activities is required to be allowed to take the exam.
MED/03 - MEDICAL GENETICS
MED/08 - PATHOLOGY
MED/08 - PATHOLOGY
Lessons: 48 hours
Professor(s)
Reception:
Reception:
2.00 pm - 5.00 pm
The AIRC Institute of Molecular Oncology (IFOM), Via Adamello 16, Milan