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 2025/2026The 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.
1° Year
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2 courses among the following3 courses among the following1 course among the following1 course among the following2° Year activated in the A.Y. 2022/2023
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| Modules | Credits | TAF | SSD |
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2 courses among the following3 courses among the following1 course among the following1 course among the following| Modules | Credits | TAF | SSD |
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| Modules | Credits | TAF | SSD |
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2 courses among the following ("BIOTECHNOLOGY IN NEUROSCIENCE" AND "CLINICAL PROTEOMICS" 1ST AND 2ND 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.
Human genome sequencing and interpretation (2021/2022)
Teaching code
4S003666
Credits
6
Language
English
Scientific Disciplinary Sector (SSD)
BIO/18 - GENETICS
The teaching is organized as follows:
Teoria
Laboratorio [1° turno]
Laboratorio [2° turno]
Laboratorio [3° turno]
Learning outcomes
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.
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
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
Clinical Genome Interpretation
• Clinical Genomics for Constitutional Diseases
• Clinical Genomics for Somatic Diseases (Cancer)
• Reference Databases for Disease Associations
Reporting of Clinical Genomics Test Results
Bibliography
Examination Methods
written, open questions
