This course covers the principles of human genetics and their application to medicine in the genomic era. It addresses genome organisation and variation, patterns of inheritance, chromosomal and single-gene disorders, the genetics of complex traits, and the genomic technologies—arrays and next-generation sequencing—used to detect and interpret variants. It then examines the application of genomics to diagnosis and therapy, including cancer genetics, pharmacogenomics and precision medicine, together with the clinical genomics workflow, genetic counselling and the ethical, legal and social implications of genomic medicine. Emphasis is placed on evidence-based variant interpretation and case-based reasoning.
Grad Scheme
Letter
Prerequisites
None