At the successful conclusion of this module, you should be able to demonstrate the following Module Level Learning Outcomes: LO.1 Knowledge & Understanding You will acquire knowledge of: • (i) model of inheritance of a mendelian disease, disease recurrence risks and carrier probabilities and (ii) the principles of NGS techniques and data interpretation. LO.2 Application of Knowledge You will be able to: • (i) construct family pedigrees and calculate disease recurrence risks and carrier probabilities; moreover (ii) actively analyse several clinical cases, integrating pedigree-based risk assessment with NGS data interpretation LO.3 Autonomy of Judgement You will be able to: • identify correct interpretations of experimental results and molecular data within the context of basic principles of molecular and clinical genetics. LO.5 Learning Skills You will be able to: • Demonstrate responsibility for independent study by integrating laboratory work, readings, and teaching materials to consolidate the foundations of human genetics.
Prerequisiti
For further information please see the Integrated Course syllabus
Metodi didattici
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, 5). 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.5).
Verifica Apprendimento
For further information please see the Integrated Course syllabus
Testi
• R.L. Nussbaum, R.R. McInnes, H.F. Willard. Thompson & Thompson Genetics in Medicine. 9th ed. Edises. Additional materials, including selected scientific articles will be distributed via the KIRO e-learning platform
Contenuti
This laboratory module supports learning on the parallel HUMAN GENETICS module by providing you with practical experience with NGS analysis and data interpretation. You will learn how to calculate disease recurrence risks and carrier probabilities through the analysis and resolution of family pedigrees. In addition, they will be guided through the main steps required to analyse and obtain a molecular diagnosis from genetic data generated by next-generation sequencing (NGS) techniques. Finally, using their own computers, students will actively analyse several clinical cases, integrating pedigree-based risk assessment with NGS data interpretation. This module will also introduce you to the use of common genomic, population, and disease databases.
Lingua Insegnamento
INGLESE
Altre informazioni
For further information please see the Integrated Course syllabus
