GENETICS AND BIOINFORMATICS
2° Year of course - Second semester
Frequency Not mandatory
- 9 CFU
- 72 hours
- Italian
- Trieste
- Opzionale
- Standard teaching
- Oral Exam
- SSD BIO/18
KNOWLEDGE AND UNDERSTANDING:
Learn vocabulary and processes so that you are conversant in genetics topics and can communicate with colleagues.
APPLYING KNOWLEDGE AND UNDERSTANDING:
Be able to articulate connections between multiple levels of genetic organization: molecular mechanisms, the expression of DNA at the individual level, and the transmission of that DNA across generations at the individual and population levels.
Making Judgements
The autonomy of judgment is developed in the individual preparation for the examination through the assimilation and re-elaboration of the contents covered in the course.
Communication skills
The student must be able to express his/ her knowledge about the course contents using appropriate terms and an appropriate genetic language. The written test includes open questions in which the student must demonstrate the ability to rework and communicate the knowledge
learned.
Learning skills
Learning skills will be assessed during the course by involving students in the discussion of the topics covered
The course of INFORMATIC ANALYSIS OF GENOMIC DATA aims to provide knowledge of the basic aspects of data analysis in Genomics.
At the end of the course the student will know the interrelationships between the production, in the laboratory, of genomic data and its analysis. It will also learn about the main analysis of microarray and different NGS platforms.
ELEMENTI DI BIOLOGIA CHIMICA E MOLECOLARE
The course aims to introduce the student to the main problems relating to the development of adequate computational tools for the solution of problems deriving from the analysis of genetic sequences of both prokaryotic and eukaryotic microorganisms. The main objectives are to provide the student with a systematic framework of the problems of a sector characterized by a recent and rapid evolution, the necessary tools to be able to face various problems in the field of molecular biology and microbial genetics and the current bioinformatics tools useful to solve problems related to biology and medicine.
Elements of genomic
• Organization of the genome, methods for deep sequencing of DNA and RNA.
• Biological Database
• Use of genomic navigators (UCSC Genome, Ensemble, BioMart)
• Alignment Algorithms
• Prediction of regions coding algorithms
• Annotation Algorithms
• Meta-analysis of public sequences.
Handouts are available on moodle platform
Introduction to genomics: definition and traditional discipline of genetics integrated into genomics.
Structural and genetic organization of prokaryotic genomes and eukaryotic organelles.
Structural and genetic organization of eukaryotic genomes. The human genome. Development of the Human Genome Project (HGP). Historical notes, cultural and organizational aspects. The main scientific strategies and approaches used for the realization of the HGP and its aims. Organization of a large-scale sequencing project.
Genetic and molecular techniques that allow the study, molecular characterization and annotation of entire genomes. Mass and ultra-massive sequencing techniques and applications are used for the study of genomes, the concepts of genomic assembly and annotation, and the methods of investigation of genomic databases to carry out and undertake genomic studies. Second-generation sequencing methods. Third-generation sequencing methods. The role of bioinformatics.
Genomic-scale experimental approaches can be used to define genes and genetic pathways.
Methods of studying molecular variability. Metabarcoding and metagenomics. Genomic-scale mutation screening as a strategy for functional genetic dissection of complex biological processes.
I will assign regularly readings and problems that pertain to lecture material with each lecture outline. Practical for solving genetics problems.
Any changes these indications, which may become necessary to ensure the application of safety protocols related to the COVID19 emergency, will be communicated on the Department's and Degree Course websites and Lecture course Moodle page
Slides and other materials will be available on moodle
The student should respond by demonstrating adequate
knowledge and interpretative competence of the general and specific contents, an
ability to link and elaborate the contents, as well as a relevant, clear and correct
relevant, clear and correct exposition. The evaluation of the test is
expressed in thirtieths and is considered insufficient if the student demonstrates
difficulty in focusing on the proposed topics, very poor knowledge of the topics and
knowledge of the arguments and extreme narrowness of exposition. As the
degree of detail of the knowledge demonstrated by the student will increase
proportionally increase the positivity of the assessment. The maximum mark is
obtained in the case of excellent mastery and critical-interpretive competence of the
The maximum mark is obtained in the event of excellent mastery and critical-interpretive competence of the course content, combined with good expository skills attested by the use of appropriate scientific terminology.
Development of an R program for the management of genomic data
Examples are available on the moodle platform.
Any changes to these indications, which may become necessary to ensure the application of safety protocols related to the COVID19 emergency, will be communicated on the Department's and Degree Course websites and Lecture course Moodle page