Advanced Genomics and Epigenomics
A.Y. 2026/2027
Learning objectives
The course can be split into two separate modules. In the Epigenomics module, students will first learn the genetic and epigenetic mechanisms underlying the regulation of gene expression. Then, they will learn the most widely used genome-wide NGS-based assays for their characterization, like ChIP-Seq, BS-Seq, etc, as well as the respective bioinformatic analysis pipelines. In the Advanced Genomics module, further genome-wide assays will be presented, expanding those already introduced in the Genomics and Transcriptomics course of the first year.
Expected learning outcomes
At the end of the course, students will be able to know apply state of the art bioinformatic pipelines, and understand their results, for:
- Genome wide characterization of transcription regulation (DNA methylation, nucleosome positioning, histone modifications, chromatin interactions, transcription factor binding)
- Advanced methods for the characterization and quantification of transcriptomes in both eukaryotes and prokaryotes, including small RNAs
- Metagenomics analyses
- Evolutionary genomics
- Genome wide characterization of transcription regulation (DNA methylation, nucleosome positioning, histone modifications, chromatin interactions, transcription factor binding)
- Advanced methods for the characterization and quantification of transcriptomes in both eukaryotes and prokaryotes, including small RNAs
- Metagenomics analyses
- Evolutionary genomics
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
Responsible
Course syllabus
EPIGENOMICS (6 CFU)
Introduction to epigenomics
· Chromatin structure
· DNA modifications
· Histone variants and post-translational modifications
· Polycomb (PcG) and Trithorax group (TrxG) protein complexes
· Chromatin remodeling
· Chromatin organization in the cell nucleus
· RNA-based mechanisms of gene silencing
· Dosage Compensation Systems
· Genomic imprinting
Genome-wide assays and bioinformatic analysis protocols for the characterization of genetic and epigenetic regulation of gene transcription:
Nucleosome occupancy and DNA accessibility (e.g. ATAC-Seq)
DNA Methylation (e.g. BS-Seq, third generation sequencing)
Chromatin conformation capture assays (e.g. Hi-C, ChIA-Pet)
ChiP-Seq for Transcription Factors
ChiP-Seq for histone modifications and definition of chromatin states
Single cell assays in epigenomics
ADVANCED GENOMICS (6 CFU)
Transcription factor binding site analysis: Information Theory, Position weight matrices;
Network theory: network formalization of biological systems, topological analysis for the identification of important nodes;
Gene regulatory network reconstruction using gene expression compendia (CLR and similar algorithms);
Transposon insertion mutagenesis - theoretical basis of fitness measurements in competition experiments, techniques (Tn-Seq, Tn-seq circle, TraDIS, Rb-Tn-seq...) and analysis;
The small RNA (sRNA) world:
-Non coding RNAs in Bacteria: theoretical aspects, analysis. Case studies: Quorum sensing regulation in Vibrio fischeri and in Vibrio cholerae
-sRNAs in Plants. Experimental approaches, sequencing and the quest for targets aided by PARE (degradome sequencing) in plants.
Meta-taxonomics, meta-genomics, meta-transcriptomics for the characterization and the engineering of microbial communities
More or less half of the CFUs concern practical lessons (PL) by using R. The topics of PLs are decided on the basis of recent papers and dataset and are intended to provide an idea about setting up a research work on biologically sound questions. Some PLs are based on code prepared by the teacher; in other cases, the teacher will present a paper and the associated data, and students will be encouraged to explore specific aspects by their own, under the supervision of the teacher. In these cases, lessons require a more active participation of students to define questions and the way to answer them with the data at hand. Use of AI to generate code is allowed, but students must demonstrate they understand their own code when discussing their code and results. Exam projects will be started in class at the end of the course giving the possibility to students attending classes to set up their analysis.
Introduction to epigenomics
· Chromatin structure
· DNA modifications
· Histone variants and post-translational modifications
· Polycomb (PcG) and Trithorax group (TrxG) protein complexes
· Chromatin remodeling
· Chromatin organization in the cell nucleus
· RNA-based mechanisms of gene silencing
· Dosage Compensation Systems
· Genomic imprinting
Genome-wide assays and bioinformatic analysis protocols for the characterization of genetic and epigenetic regulation of gene transcription:
Nucleosome occupancy and DNA accessibility (e.g. ATAC-Seq)
DNA Methylation (e.g. BS-Seq, third generation sequencing)
Chromatin conformation capture assays (e.g. Hi-C, ChIA-Pet)
ChiP-Seq for Transcription Factors
ChiP-Seq for histone modifications and definition of chromatin states
Single cell assays in epigenomics
ADVANCED GENOMICS (6 CFU)
Transcription factor binding site analysis: Information Theory, Position weight matrices;
Network theory: network formalization of biological systems, topological analysis for the identification of important nodes;
Gene regulatory network reconstruction using gene expression compendia (CLR and similar algorithms);
Transposon insertion mutagenesis - theoretical basis of fitness measurements in competition experiments, techniques (Tn-Seq, Tn-seq circle, TraDIS, Rb-Tn-seq...) and analysis;
The small RNA (sRNA) world:
-Non coding RNAs in Bacteria: theoretical aspects, analysis. Case studies: Quorum sensing regulation in Vibrio fischeri and in Vibrio cholerae
-sRNAs in Plants. Experimental approaches, sequencing and the quest for targets aided by PARE (degradome sequencing) in plants.
Meta-taxonomics, meta-genomics, meta-transcriptomics for the characterization and the engineering of microbial communities
More or less half of the CFUs concern practical lessons (PL) by using R. The topics of PLs are decided on the basis of recent papers and dataset and are intended to provide an idea about setting up a research work on biologically sound questions. Some PLs are based on code prepared by the teacher; in other cases, the teacher will present a paper and the associated data, and students will be encouraged to explore specific aspects by their own, under the supervision of the teacher. In these cases, lessons require a more active participation of students to define questions and the way to answer them with the data at hand. Use of AI to generate code is allowed, but students must demonstrate they understand their own code when discussing their code and results. Exam projects will be started in class at the end of the course giving the possibility to students attending classes to set up their analysis.
Prerequisites for admission
Genomics and transcriptomics course of the 1st year.
Teaching methods
Lectures that present the biological and methodological bases of the different analysis domains studied will alternate with practical exercises in which students will implement and apply to real data state of the art bioinformatic analysis methods and pipelines.
Teaching Resources
All the slides, lecture notes, articles, along with the code used during practical lectures will be made available through the Ariel web pages of the course.
Assessment methods and Criteria
Students will be assigned practical projects, one for Epigenomics and one for Advanced Genomics. At the exam, students will present and discuss with the instructors the results obtained.
BIO/11 - MOLECULAR BIOLOGY - University credits: 3
BIO/18 - GENETICS - University credits: 3
BIO/19 - MICROBIOLOGY - University credits: 6
BIO/18 - GENETICS - University credits: 3
BIO/19 - MICROBIOLOGY - University credits: 6
Lectures: 96 hours
Professor(s)
Reception:
Wednesday, h. 15.00- 17.00
Via Celoria 26 (Department of Biosciences)/Online - by appointment