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  • 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.


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