AIML Research Seminar: How Has AI/ML Accelerated Genomic Discovery?

Dr Denis Bauer is a government research scientist, adjunct professor at Macquarie University and an AWS Hero. Her unique approach of joining cloud-computing with deep biological domain knowledge translates research into impactful products that have been used for disease gene detection in Motor Neuron Disease and the COVID-19 vaccine development. She contributes to advisory committees and open-source software projects, as well as keynotes international IT and Medical conferences. She was recognized as Brilliant Women in Digital Health 2021 and Women in AI 2022. She has attracted more than $41M in funding to further life-science research and digital health. 

Machine Learning and Artificial Intelligence has had a transformative effect on many sectors and research is no exception. However, AI/ML struggles scaling to ultra-high-dimensional data, such as genomics with up to 3 billion features describing a single sample. We developed a Random Forrest machine learning platform specifically designed for ultra-high-dimensional data, enabling the discovery of actionable genes as user-friendly webservices. Having developed novel statistical approaches to wrap around the ML output, we analysed the world’s largest genomics resources to discover novel Alzheimer’s and cardiovascular disease genes. Aiming at democratizing genomic data access and using large language models, we developed a natural language query engine that can help researchers and clinicians to interrogate the world’s genomic data resources to gain insights for their patients or detect emerging infectious diseases early.