Module Details

Biostatical and epidemiological methods, applied to clinical and to global public health: molecular omics sciences

MF0621

Course
Biostatical and epidemiological methods, applied to clinical and to global public health: molecular omics sciences
Code
MF0621
Academic Year
2024/2025
Curriculum Year
2023/2024
Degree Programme
ARTIFICIAL INTELLIGENCE AND DIGITAL INNOVATION
Curriculum
A014 - Bio-Medicale
Course coordinator
Lecturers
Credits
3
Lecture Hours
24
Scientific Disciplinary Sector (SSD)
MED/03 - Medical Genetics
Course Type
Single-subject learning activity
Course Delivery
OBB - Obbligatoria
Year
2
Teaching period
Primo Semestre
Campus
VERCELLI
Teaching language
Italian
Course Contents
Review of the basics of genetics and genomics. Genome structure, DNA replication, flow of genetic information.
DNA polymorphisms and mutations,
PCR and sequencing techniques: Sanger and Next Generation Sequencing.
Applications of Next Generation sequencing: whole exome sequencing, whole genome sequencing and panel analysis (target resequencing).
Analysis pipeline of a genomic sequencing run: alignment, variant calling, annotation.
Genotyping techniques for known DNA polymorphisms. Genotyping platforms.
GWAS studies: techniques, analysis methods.
Transcriptomics techniques.
Epigenetics and methylation analysis
Reference Texts
.
Learning Outcomes
Knowledge and understanding: the aim of the course is to provide the student with theoretical and applicative knowledge on the main omics sciences, in particular on genomic and transcriptomic analysis.

Applying knowledge and understanding: ability to interpret genomic and transcriptomic data in the field of diagnostics and research.

Autonomy of judgment: autonomy of judgment in critically evaluating the experimental results, with particular attention to data obtained from DNA-sequencing, RNA-sequencing and GWAS. Ability to critically interpret scientific articles in the field of omics sciences.

Communication skills: improvement of the disciplinary lexicon in the field of genetics, genomics and transcriptomics. Ability to report on the topics presented during the course with an appropriate scientific language.
Learning skills: acquisition of the ability to critically deepen and autonomously update the skills acquired, by reading texts and scientific articles. Ability to use the didactic material for a critical and reasoned study.
Prerequisites
Basic knowledge of genetics and molecular biology
Teaching Methods
Frontal lessons
Additional Information
Students with physical disabilities, Learning Disabilities or Special Education Needs can request specific services and tools via the Staff Sviluppo e Coordinamento Carriere e Servizi alle Studentesse e agli Studenti, consulting the University webpage: https://www.uniupo.it/en/services/services- students-physical-or-learning-disabilities Students with disabilities, learning disabilities or special education needs, once they have contacted the University Staff, can refer to the tutor in charge of the course to define the examination modalities, concerning academic aspects.
Assessment Methods
Oral examination
Detailed Syllabus
Review of the basics of genetics and genomics. Genome structure, DNA replication, flow of genetic information.
DNA polymorphisms and mutations,
PCR and sequencing techniques: Sanger and Next Generation Sequencing.
Applications of Next Generation sequencing: whole exome sequencing, whole genome sequencing and panel analysis (target resequencing).
Analysis pipeline of a genomic sequencing run: alignment, variant calling, annotation.
Genotyping techniques for known DNA polymorphisms. Genotyping platforms.
GWAS studies: techniques, analysis methods.
Transcriptomics techniques.
Epigenetics and methylation analysis
Expected Learning Outcomes
KNOWLEDGE: during the course the student will learn the basics of the methods employed in genomics and transcriptomics, and acquired the ability to understand and interpret this type of data with the ultimate aim of exploiting its applications in the medical field, both for research and diagnostics purpose. The students will deepen the techniques of Next Generation Sequencing and their applications in genomics and transcriptomics, and will learn the statistical and bio-informatic analysis of data of Next Generation Sequencing and of Genome-Wide Association Studies.

COMPETENCES AND SKILLS: ability to interpret genomic and transcriptomic data in the field of diagnostics and research. Ability to critically interpret scientific articles in the field of omics sciences.
Last update:09-09-2026 00:14:31