Methodologies of analysis of unknown mutations
Learning outcomes of the course unit
After completing the course the student will be able to know and understand the methods of investigation to search for mutations to be used in relation to the diagnostic needs.
By applying this knowledge critically acquired the student will be able to:
-use of molecular analysis methods most widespread
-use basic bioinformatics programs open access
Course contents summary
The course aims to apply the acquired knowledge on human genome analysis using a range of methods that the student must know to understand their potential and their applications
Methods for the detection of mutations: a comparison of techniques.
Direct gene sequencing.
The analysis of the sequences.
New sequencing technologies: Next Generation Sequencing.
Material provided by the teacher
Lectures supplemented by attendance in the laboratory, to train the student to the application of the learned concepts.
Assessment methods and criteria
The examination includes the assessment of the achievement of the objectives of the course through a written test with multiple choice questions.