Knowledge of the main diagnostic tests and approaches, bioinformatic databases and softwares to be used in medical genetics, in a modern context of precision medicine.
Course Prerequisites
Good knowledge in the field of general biology, human genetics, human anatomy and human physiology. In particular, a deep knowledge of main concepts acquired during the basic courses held during the first year, such as: structure and function of DNA and RNA; protein synthesis; DNA mutations; structure, function and organization of chromosomes; mitosis and meiosis; basic elements of statistics; nucleic acid chemistry; protein chemistry; ability to use websites for scientific bibliographic research (e.g. PubMed, OMIM, ...).
Teaching Methods
Introductory lectures and practical bioinformatics sessions; the teaching material will be made available to the students; the lessons will be organized in such a way that all the topics are illustrated by practical examples that demonstrate how the topics under discussion may have a practical application in their future professional activity. Teacher / student interaction will be stimulated as much as possible.
During the practical sessions the students will learn the utility of several bionformatic tools useful in clinical genetics. Furthermore, scientific papers will be provided for in-depth analysis of the main topics of the course.
Assessment Methods
Learning is tested through a written examination consisting of multiple choice questions (5 answer options, only one correct; no penalty for incorrect answers) together with the clinical biochemistry module. The number of questions is proportional to the number of credits (CFUs) and with 0-30L rating scale.
Texts
Presentation slides and scientific papers;
New Clinical Genetics, fourth edition A guide to genomic medicine Read, Donnai Scion 2021 ISBN 9781911510703
Contents
Cytogenetics and cytogenomics: Copy Number Variations (CNVs), Structural Variants (SVs), Karyotyping, FISH, Array-CGH/SNP-array; Next generation sequencing (NGS) and clinical databases: NGS workflow, Variant annotation and interpretation (basic bioinformatic tools), Clinical databases for variant interpretation; Genetic testing in clinical practice: targeted panels, WES, WGS, incidental findings and actionable genes (ACMG guidelines), liquid biopsy; Non-coding genome and TADs (topologically associating domains); Mosaicism and NGS; Clinical cases
Course Language
English
More information
Attendance of the lessons (at least 75%) is strongly recommended in order to take the exam.
To make appointment, please email: edoardo.errichiello@unipv.it
