Research Fellow
College of Medicine and Public Health
I obtained my PhD in 2016 from the University of Melbourne (Supervisor Charles Robin). There I used quantitative genetics methods to research insecticide resistance in drosophila. My first post-doc position (PI Aida Andrés) was at the Max-Planck-Institute of Evolutionary Anthropology (Leipzig, Germany), where I worked on evolutionary genetics in great apes and humans, research I continued when I moved to UCL. I returned to Australia to work on statistical genetics at the University of Adelaide, before a career switch into medical genetics upon my move to Flinders University.
Currently I am leading the analysis of Copy Number Variants and their association with glaucoma and related endophentypes in the patient cohorts including ANZRAG and PROGRESSA. This includes generating custum bioinformatics piplines for the analysis of thousands of exome and SNP array samples.
I am also interested in the genetic diagnosis of childhood/early onset glaucoma and other diseases of vision and the discovery of new disease genes.
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Check out my github here: https://github.com/joshuamschmidt