Aims/Description: This module is to provide a brief introduction to the clinical presentation and manifestations of rare inherited and common diseases and consider the patient and family perspective with respect to the role and impact of genomics. The module will also offer a comprehensive overview of the traditional and current strategies and techniques used to identify genes responsible for both common multifactorial and rare inherited diseases. This module will also describe the Genomics England 100,000 Genomes Project and data infrastructure and through practical examples highlight which how patients with unmet diagnostic need will benefit from exome or whole genome sequencing.
Restrictions on availability: None
Information on the department responsible for this unit (Neuroscience):
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Teaching methods and assessment displayed on this page are indicative for 2021-22. Students will be informed by the academic department of any changes made necessary by the ongoing pandemic.