At the successful conclusion of this module, you should be able to demonstrate the following level learning outcomes: - CLO1. Knowledge & Understanding: You will develop the ability to acquire knowledge of genetic diagnostic approaches, including cytogenetics, next generation sequencing, and clinical databases, within the framework of precision medicine. - CLO2. Application of Knowledge: You will be able to apply genetic principles to interpret laboratory outputs, variant annotations, and bioinformatic results in defined clinical cases. - CLO3. Autonomy of Judgement: Students distinguish clinically relevant genetic variants from benign findings and identify diagnostic, prognostic, and ethical implications of genetic testing. - CLO4. Learning Skills: You will demonstrate the ability to update your knowledge of laboratory medicine through the use of scientific literature, case examples, and digital learning tools.
Course Prerequisites
For further information please see the Integrated Course syllabus.
Teaching Methods
This laboratory module by provides you with the opportunity to carry out practical exercises (supports LO.2) in the laboratory in small groups, working with peers (supports LO.3-4). This module includes the following teaching methods: explanatory lectures and interactive discussion (supports LO.1), group-work and instructor guided practical examples and exercises. The module will include guidance to help you prepare for the exam and throughout, there is a focus on the practical applications of this module for future professional activity (supports LO.4).
Assessment Methods
For further information please see the Integrated Course syllabus
Texts
Read A, Donnai D. New Clinical Genetics. 3rd ed. Scion Publishing Ltd; 2015.
Additional materials, including selected scientific articles will be distributed via the KIRO e-learning platform
Contents
This module introduces cytogenetic and genomic diagnostic techniques, including karyotyping, FISH, array-based technologies, and next-generation sequencing (NGS), with practical exposure to clinical databases and basic bioinformatic tools for variant interpretation. Within the context of contemporary precision medicine, students gain hands-on laboratory experience and learn the main diagnostic tests, bioinformatic databases, and software used in medical genetics.
Key themes include cytogenetics and cytogenomics, NGS workflow, variant annotation and interpretation, genetic testing in clinical practice (targeted panels, WES, WGS, liquid biopsy), non-coding genome and TADs, mosaicism, and clinical case discussions. The module prepares students to interpret genetic variants and apply genomic insights effectively in patient care.
Course Language
English
More information
For further information please see the Integrated Course syllabus.
To arrange an appointment with Professor Errichiello: edoardo.errichiello@unipv.it
