Insegnamento: GENETICA
Settore Scientifico Disciplinare (SSD) BIO/18 - GENETICA 
Crediti: 6
Semestre: 1
Corsi di Laurea: LM2 Biotecnologie;  L31 Bioinformatica

Diapositive

Obiettivi formativi:
Il corso fornisce conoscenze relative all’organizzazione del materiale genetico, alla trasmissione e ricombinazione dei caratteri ereditari, alle aberrazioni dei cromosomi e dei geni, alla dinamica dei geni nelle popolazioni. Vengono inoltre introdotte le evidenze genetiche della cancerogenesi e di alcune importanti malattie, e le differenze fra organismi geneticamente modificati e "naturali" Alla fine del corso lo studente avrà compreso le basi genetiche della vita e sarà in grado di affrontare un percorso formativo sia biotecnologico sia bioinformatico.

Module: Human Genome Sequencing and Interpretation
Scientific Sector BIO/18 - GENETICS 
Credits: 6
Semester: 1
Degree class: LM9 ​Master's degree in Molecular and Medical Biotechnology

sLIDES

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.   

Module: Human Genomics and Epigenomics
Scientific Sector BIO/18 - GENETICS 
Credits: 6
Semester: 1
Degree class: LM18 Master's degree in Medical Bioinformatics

SLIDES

Learning outcomes:
Scope of the course is to provide the most important concepts of human genomics and epigenomics. A key point of the course is the detailed description of the human reference genome in terms of structure and function, with an extensive description of the Enciclopedia Of DNA Elements(ENCODE) functional datasets. 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 epigenetics mechanisms that ensure cellular identity and function.