WEBINAR: Variant interpretation: from the clinic to the lab… and back again
This record collates training materials associated with the Australian BioCommons/Melbourne Genomics webinar ‘Variant interpretation: from the clinic to the lab… and back again’. This webinar took place on 7 December 2022.
Event description
The use of genomic testing is increasing rapidly as...
Keywords: Clinical genomics, Variant interpretation, Variant curation, Continuing Professional Development, Professional Development, Bioinformatics, Genomics, Variant calling
WEBINAR: Variant interpretation: from the clinic to the lab… and back again
https://zenodo.org/records/7425920
https://dresa.org.au/materials/webinar-variant-interpretation-from-the-clinic-to-the-lab-and-back-again-5c6aed91-24cd-4314-9638-5e60d51e1af1
This record collates training materials associated with the Australian BioCommons/Melbourne Genomics webinar ‘Variant interpretation: from the clinic to the lab… and back again’. This webinar took place on 7 December 2022.
Event description
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.
This webinar is co-presented by Australian BioCommons and Melbourne Genomics
Materials are shared under a Creative Commons Attribution 4.0 International agreement unless otherwise specified and were current at the time of the event.
Files and materials included in this record:
Event metadata (PDF): Information about the event including, description, event URL, learning objectives, prerequisites, technical requirements etc.
Index of training materials (PDF): List and description of all materials associated with this event including the name, format, location and a brief description of each file.
Variant interpretation from the clinic to the lab and back again.pdf: A PDF copy of the slides presented during the webinar.
Materials shared elsewhere:
A recording of this webinar is available on the Australian BioCommons YouTube Channel:
https://youtu.be/wLMhwIiK8Lw
Melissa Burke (melissa@biocommons.org.au)
Baker, Naomi
Vissers, Joep (orcid: 0000-0003-0435-6824)
Nisselle, Amy (orcid: 0000-0002-8908-5906)
Clinical genomics, Variant interpretation, Variant curation, Continuing Professional Development, Professional Development, Bioinformatics, Genomics, Variant calling
23 (research data) Things
23 (research data) things is a set of training materials exploring research data management. Each of the 23 things offers a variety of learning opportunities with activities at three levels of complexity:
- Getting started
- Learn more
- Challenge me
All resources used in the program are online...
Keywords: research data management, training material
23 (research data) Things
https://zenodo.org/records/3955524
https://dresa.org.au/materials/23-research-data-things-793872d2-c221-4cd6-91be-11a313c74b78
23 (research data) things is a set of training materials exploring research data management. Each of the 23 things offers a variety of learning opportunities with activities at three levels of complexity:
* Getting started
* Learn more
* Challenge me
All resources used in the program are online and free to use and reuse under a Creative Commons Attribution 4.0 International licence. You could use all of them as a self-paced course, or choose components to integrate into your own course.
The 23 things are designed to build knowledge as the program progresses, so if you’re new to the world of research data management, we suggest you start with things 1-3 and then decide where you want to go from there.
These materials supported an international community-based training program delivered in 2016 by the Australian National Data Service.
This release migrates these materials to a GitHub repository for continued maintenance. Some updates were made to material that was outdated.
We welcome contributions and suggestions via GitHub Issue or Pull Request.
contact@ardc.edu.au
Liffers, Matthias (orcid: 0000-0002-3639-2080)
Stokes, Liz (orcid: 0000-0002-2973-5647)
Burton, Nichola (orcid: 0000-0003-4470-4846)
Kelly, Andrew (orcid: 0000-0002-5377-5526)
Honeyman, Tom (orcid: 0000-0001-9448-4023)
Brownlee, Rowan (orcid: 0000-0002-1955-1262)
Levett, Kerry (orcid: 0000-0001-5963-0195)
Brady, Catherine (orcid: 0000-0002-7919-7592)
research data management, training material
ARDC FAIR Data 101 self-guided
FAIR Data 101 v3.0 is a self-guided course covering the FAIR Data principles
The FAIR Data 101 virtual course was designed and delivered by the ARDC Skilled Workforce Program twice in 2020 and has now been reworked as a self-guided course.
The course structure was based on 'FAIR Data in the...
Keywords: training material, FAIR data, video, webinar, activities, quiz, FAIR, research data management
ARDC FAIR Data 101 self-guided
https://zenodo.org/records/5094034
https://dresa.org.au/materials/ardc-fair-data-101-self-guided-2d794a84-f0ff-4e11-a39c-fa8ea481e097
FAIR Data 101 v3.0 is a self-guided course covering the FAIR Data principles
The FAIR Data 101 virtual course was designed and delivered by the ARDC Skilled Workforce Program twice in 2020 and has now been reworked as a self-guided course.
The course structure was based on 'FAIR Data in the Scholarly Communications Lifecycle', run by Natasha Simons at the FORCE11 Scholarly Communications Institute. These training materials are hosted on GitHub.
contact@ardc.edu.au
Stokes, Liz (orcid: 0000-0002-2973-5647)
Liffers, Matthias (orcid: 0000-0002-3639-2080)
Burton, Nichola (orcid: 0000-0003-4470-4846)
Martinez, Paula A. (orcid: 0000-0002-8990-1985)
Simons, Natasha (orcid: 0000-0003-0635-1998)
Russell, Keith (orcid: 0000-0001-5390-2719)
McCafferty, Siobhann (orcid: 0000-0002-2491-0995)
Ferrers, Richard (orcid: 0000-0002-2923-9889)
McEachern, Steve (orcid: 0000-0001-7848-4912)
Barlow, Melanie (orcid: 0000-0002-3956-5784)
Brady, Catherine (orcid: 0000-0002-7919-7592)
Brownlee, Rowan (orcid: 0000-0002-1955-1262)
Honeyman, Tom (orcid: 0000-0001-9448-4023)
Quiroga, Maria del Mar (orcid: 0000-0002-8943-2808)
training material, FAIR data, video, webinar, activities, quiz, FAIR, research data management