WEBINAR: Variant interpretation: from the clinic to the lab… and back again
Date: 7 December 2022 @ 13:00 - 14:00
Timezone: Melbourne
Duration: 1 hour
The use of genomic testing is increasing rapidly as the cost of genome sequencing decreases. Many areas of the health workforce are upskilling in genomics to help meet the increased demand. From clinicians learning how to use the right test, for the right patient, at the right time, to medical scientists learning how to interpret and classify variants, and data scientists to learning how to better create and continuously refine the pipelines and software to handle and curate big data.
In this webinar, we’ll hear from two people working at the coalface of variant interpretation – one in a diagnostic laboratory and the other in a cancer research laboratory.
Naomi Baker is Medical Scientist at Victorian Clinical Genetics Services. She helps process hundreds of genomic tests per year to find the variants that cause rare diseases. She’ll explain the clinical variant interpretation processes she uses, the pipelines, professions and people involved.
Joep Vissers is a Curation Team Leader, at the University of Melbourne Centre for Cancer Research, Department of Clinical Pathology. Joep, who also teaches cancer biology at the University, will describe how he uses variant interpretation in his work at the research/clinical interface, and the shift in mindset required when working with data for these different purposes.
Amy Nisselle, Genomics Workforce Lead at Melbourne Genomics, will then briefly outline some of the education programs available in clinical variant interpretation.
Speakers:
Naomi Baker, Medical Scientist, Victorian Clinical Genetics Services
Joep Vissers, Curation Team Leader, The University of Melbourne Centre for Cancer Research, Department of Clinical Pathology
Amy Nisselle, Genomics Workforce Lead, Melbourne Genomics
Who the webinar is for:
This webinar is for anyone interested in how genomics technologies and workflows are used to inform clinical practice.
Whether you’re wanting to get started in translational research, curating big data in a clinical setting or just curious about careers and opportunities in clinical genomics there is something in this webinar for you.
How to join:
This webinar is free to join but you must register for a place in advance.
This webinar is co-hosted by Australian BioCommons and Melbourne Genomics
Contact: training@biocommons.org.au
Keywords: Variant calling, Clinical genomics, Variant interpretation
Learning objectives:
- Describe the clinical variant interpretation processes used by the Victorian Clinical Genetics Services
- Provide an example of how variant interpretation is used at the research/clinical interface, and the shift in mindset required when working with data for these different purposes.
Organizer: Australian BioCommons
Host institutions: Australian BioCommons, Melbourne Genomics
Eligibility:
- First come first served
Capacity: 1000
Event types:
- Workshops and courses
Tech requirements:
This webinar is broadcast using Zoom.
Cost basis: Free to all
Scientific topics: Genetic variation, Genomics
Operations: Variant calling
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