In addition to the ever increasing number of clinical biorepositories/biobanks there are now many population-cohort human biobanks, several with participant numbers over 100,000 individuals. These biobanks vary in their breadth of available data, with many still adding new layers of data. Newer, larger and more diverse biobanks are also continuing to come online. These biobanks are snapshots of human diversity and when attached to clinical, demographic or other data, can give valuable insights into phenotypic relevance of a particular mutation, gene or pathway, or conversely, identify genes and mutations important for traits of interest, such as a specific disease. This presentation will give worked examples on how to make use of such data, show their impact and outline possibilities for in-depth, bespoke analyses.
Professor Melanie Bahlo AM FAHMS, leads the Statistical Genetics laboratory at WEHI. Her research focuses on gene discovery and function elucidation, developing innovative bioinformatic methods and approaches for analysing complex genetic datasets. Her lab has a special interest in repeat expansion disorders, genome-wide association analyses, RNA editing and image analysis leveraged genetic discoveries. Professor Bahlo’s work has led to multiple genetic discoveries in neuroscience, identifying new genes and genetic pathways using different types of genetic analyses.