OVERVIEW

Basic and Advanced Exoma Course is organized by Vall d'Hebron University Hospital / Hospital Universitari Vall d'Hebron and will be held from Dec 12 - 14, 2022.

Presentation:
In the era of next-generation sequencing, the emergence of new molecular technologies and analytical methods such as the exome is changing the paradigm of genetic study, improving the diagnosis time in known syndromes as well as allowing the discovery of new disease-causing genes.

It is of special interest for the different professionals involved in the management of patients with rare diseases to have basic training in the study of the exome. This course is intended to be a "training pill" to improve the comprehensive knowledge of the exome test: indications, applications, results, and limitations.

Given the enthusiastic reception of the 1st edition in 2021, this year a new edition is planned with novelties in the program and expanding the theme to be developed with a third advanced module for those professionals with a greater interest in the interpretation of variations and in bioinformatics.

Objectives:
• Understanding of basic concepts in molecular genetics. understand the directions of the different types of genetic testing.
• Interpretation of exome results.
• Knowledge of the importance of informed consent and ethical aspects in the context of the exome.
• Introduction to bioinformatics in the NGS era
• Interpretation and classification of variants detected by NGS
• Become familiar with incidental secondary findings and management when detected

Additional details will be posted as soon as information is available.