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 Medical bioinformatics - 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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3 courses among the following2° Year activated in the A.Y. 2024/2025
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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 genomics and epigenomics (2023/2024)
Teaching code
4S009835
Teacher
Coordinator
Credits
6
Language
English
Scientific Disciplinary Sector (SSD)
BIO/18 - GENETICS
Period
Semester 1 dal Oct 2, 2023 al Jan 26, 2024.
Courses Single
Authorized
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 good background in genetics and molecular biology is required
Program
GENOMICS AND EPIGENOMICS TECHNOLOGIES
• Overview of Technical Aspects and Chemistries of DNA and RNA sequencing technologies
• Whole genome sequencing, whole exome secquencing, panels
• RNA Sequencing and Methylome Analysis
• Emerging technologies
THE HUMAN GENOME (articles, Genome 4)
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 (articles, Epigenetics)
• 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
BIOINFORMATICS FOR CLINICAL GENOMICS (BOOK)
Primary analysis of sequencing data
• Base Calling
• Read Mapping
• Coverage Analysis
• De duplication , recalibration , clipping
Variant calling
• Detection of Single Nucleotide Variant
• Detection of Insertions and Deletions (Indels)
• Detection of Translocations
• Detection of Copy Number Variants
Variant analysis
• Variants Annotation
• Variants Interpretation
• Variants Prioritization
Bibliography
Didactic methods
Frontal lessons with slides support. Laboratory exercises.
Slides and articles both available on Moodle. The files are updated (a new version every year) during the course.
Learning assessment procedures
Written, open questions
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. If the final score is > 30, the grade is 30 Lode
Exam language
Questions are in English. Answers can be in English or Italian
