During the module students will review the architecture of the human genome, including both coding and non-coding elements, and the regulation of gene expression. Students will then explore the nature of genetic variation within the human genome, how it arises, and how it contributes to human disease. The principles and practice of medical genetics, and the management and treatment of probands and their families will be discussed and the role of genomics in a care pathway will be examined. Modes of inheritance and clinical presentation of human disorders will be introduced. Students will develop skills in using genome browsers, genome variant databases and in silico tools for the assessment of the impact of genetic variants on clinical phenotype.
The students will receive a basic introduction to exome, genome and gene panel sequencing and their applications in clinical medicine.