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Crucial skills gained in variant curation

Melbourne Genomics recently held a two-day variant curation workshop focusing on inherited genetic conditions – with more hands-on learning opportunities to follow over coming weeks.

About 40 professionals from across the Alliance attended the fully-booked workshop, An Introduction to Variant Curation, including germline and somatic medical scientists, clinical genetics fellows, bioinformaticians, genetic counsellors, and PhD and Masters students.

Variant curation workshops place crucial skills in the hands of clinicians and scientists at the coalface of genomics. Demand for these sessions continues to increase, with participants commenting the workshop was “brilliant” and they hoped to continue to improve their skills by attending such events in future.

“I curate routinely, and this workshop has immensely increased my knowledge about databases and curation tools,” one participant commented, adding that they would now be able to share this new knowledge with colleagues.

Participants also noted the particular challenges of variant curation, the high value of a hands-on learning approach, and the unrivalled nature of Melbourne Genomics’ specialised workshops in this field.

Jointly facilitated by Dr Natalie Thorne, Melbourne Genomics Lead Specialist for Clinical Genomics, Clinical Geneticist Associate Professor Tiong Tan, and VCGS Head of Translational Genomics, Dr Sebastian Lunke, the workshop featured a series of short lectures and practical hands-on curating experiences. These included learning to use online tools and databases specific to the variant curation process.

Further workshops are scheduled, including Cardiovascular genomics: What every cardiologist should know, in Melbourne this week. This event is designed specifically for cardiologists, cardiology trainees and cardiovascular physicians.

An Introduction to Variant Curation is being held in Queensland later in August, in collaboration with the Queensland Genomics Health Alliance.

A variant curation workshop focusing on cancer is planned for Melbourne later this year.

To date, Melbourne Genomics has directly involved more than 500 professionals across the Victorian healthcare system, and has provided continuing professional development to more than 1,000 healthcare workers.

[Image:  Associate Professor Tiong Tan (left) discusses case studies at the recent variant curation workshop in Melbourne.]