This course is designed to test your competence in using the bioinformatics methods that you learned in the face to face course.
On completion you will have demonstrated that:
• You have gained an understanding of bioinformatics and the role it plays in diagnostic genetics.
• You know how to use major online genetic databases.
• You have developed advanced skills in navigating major genome browsers.
• You understand the use and scope of specialist databases (DECIPHer, dbSNP); and how they are utilised in a diagnostic and clinical context.
• You have gained skills in the use of specialist software and toolsets commonly used in diagnostic genetics for unknown variant and CNV interpretation.
• You appreciate the need to evaluate critically bioinformatics resources.
• You can relate elements of the face to face course back to the implementation of a diagnostic service.