Studying at the University of Verona

Here you can find information on the organisational aspects of the Programme, lecture timetables, learning activities and useful contact details for your time at the University, from enrolment to graduation.

Study Plan

This information is intended exclusively for students already enrolled in this course.
If you are a new student interested in enrolling, you can find information about the course of study on the course page:

Laurea magistrale in Molecular and Medical Biotechnology - Enrollment from 2025/2026

The Study Plan includes all modules, teaching and learning activities that each student will need to undertake during their time at the University.
Please select your Study Plan based on your enrollment year.

activated in the A.Y. 2023/2024
ModulesCreditsTAFSSD
Modules Credits TAF SSD
Between the years: 1°- 2°
2 courses among the following ("BIOTECHNOLOGY IN NEUROSCIENCE" 1ST YEAR; "CLINICAL PROTEOMICS" 1ST and2ND YEAR; the other courses 2nd year only)

Legend | Type of training activity (TTA)

TAF (Type of Educational Activity) All courses and activities are classified into different types of educational activities, indicated by a letter.




S Placements in companies, public or private institutions and professional associations

Teaching code

4S003666

Credits

6

Language

English en

Scientific Disciplinary Sector (SSD)

BIO/18 - GENETICS

The teaching is organized as follows:

Teoria

Credits

5

Period

Semester 1

Academic staff

Massimo Delledonne

Laboratorio [1° turno]

Credits

1

Period

Semester 1

Academic staff

Massimo Delledonne

Laboratorio [2° turno]

Credits

1

Period

Semester 1

Academic staff

Marzia Rossato

Laboratorio [3° turno]

Credits

1

Period

Semester 1

Academic staff

Marzia Rossato

Learning objectives

Scope of the course is to provide the most important concepts of clinical genomics, describing the structure and the function of the human genome as well as the most advanced approaches for its clinical interpretation A key point of the course is the detailed description of the human genome sequencing and annotation approaches carried out by the international public consortium, and by the private (Celera) initiative. The reference genome is indeed a fundamental component of nowadays human resequencing in precision medicine, and describes many key points about the structure and the function of the human genome. Then, the course will focus on the technologies of next generation sequencing and their use in detecting single nucleotide variants as well as large genomic structural variations At the completion of the course the students will be able to properly analyze and interpret a whole human genome.

Prerequisites and basic notions

A solid background in genetics and molecular biology is required

Program

SEQUENCING TECHNOLOGIES
• Sanger
• Second generation sequencing technologies
• Third generation sequencing technologies
• Whole genome sequencing
• Targeted Capture Methods for exome and gene panels
• RNA Sequencing and Methylome Analysis

THE HUMAN GENOME
The human genome sequencing consortium project
• CG content and CpG islands
• Repetitive sequences in the human genome
• Segmental duplications
• Gene content
The human genome sequencing project by Celera
• Shot gun sequencing and hybrid assembly
• Gene prediction and annotation
• SNPs in the human genome

THE ENCODE PROJECT
• Transcribed and protein-coding regions (GENCODE)
• Open chromatin
• Histone mark enrichment
• Transcription factor binding
• Gene expression
• Transcription start site (TSS) activity profiles
• RNA binding protein occupancy
• DNA methylation
• Three dimensional chromatin interactions
• Topologically associating domains (TADs)

THE HUMAN EPIGENOME
• Epigenetics and epigenomics
• DNA packaging and chromatin modification
• DNA methylation
• Histone modification
• Chromosome territories and transcriptional factories
• Topologically Associated Domains (TADs) and insulators
• The epigenetic basis of gene imprinting
• Epigenetic control of cellular differentiation
• Reprogramming the epigenome

CLINICAL GENOMICS (Bioinformatics)
Base Calling, Read Mapping and Coverage Analysis
Clinical Genome Analysis
• Detection of Single Nucleotide Variant
• Detection of Insertions and Deletions (Indels)
• Detection of Translocations
• Detection of Copy Number Variants

Bibliography

Visualizza la bibliografia con Leganto, strumento che il Sistema Bibliotecario mette a disposizione per recuperare i testi in programma d'esame in modo semplice e innovativo.

Didactic methods

Frontal lessons with video and slides support. Laboratory exercises

Learning assessment procedures

Written, open questions

Students with disabilities or specific learning disorders (SLD), who intend to request the adaptation of the exam, must follow the instructions given HERE

Evaluation criteria

Each answer is evaluated globally. Details are appreciated, although the evaluation is mainly focused on the overall description of the argument

Criteria for the composition of the final grade

11 questions, up to 3 points per question. When the final score is > 30, the grade is 30 Lode

Exam language

Questions are in English. Answers can be in English or Italian