Recent technological advances in genetics and genomics have had a significant impact on medical care. This unit provides an introduction to the detection of genetic variation in the context of human disease and an overview of bioinformatics techniques and approaches for the analysis of genomic and other omic data. Technologies include types of deep resequencing, including whole exome and whole genome sequencing, the library preparation methods, and sequencing chemistries and platforms. Methodologies and applications to diseases discussed include detection of base substitutions and splicing variants, copy number variants and other structural variants. An understanding of which methodologies to be used to detect different types of genetic variants will be developed. Cases will be used to illustrate the importance of integrating phenotypic data, genomic information and variant interpretation for accurate diagnosis. You will discuss techniques to prioritise variant pathogenicity, and the application of new technologies in gene editing, as well as omic technologies, including transcriptomics, proteomics and metabolomics, and their current and future application to medical care.
Dr Gladys Ho
online quizzes (10%), 4x 400-500 word case based discussion forums (30%), generation and peer review of assessment items (20%), , final exam (40%)
Strachan, T and Read, A. Human Molecular Genetics (4th Edition). Garland Science.
This unit assumes knowledge equivalent to GMED5001. It is strongly recommended that students who lack a good working knowledge of genomics complete GMED5001 before enrolling in this unit or take it concurrently with GMED5001.