[Workshop] An Introduction to Variant Curation

Brought to you by Queensland Genomics Health Alliance, the Melbourne Genomics Health Alliance two-day instructive, ‘hands on’ workshop: An Introduction to Variant Curation is aimed at:

• clinical geneticists
• genetic counsellors
• other clinicians
• variant curators
• diagnostic staff
• bioinformaticians

Highlights of the workshop

• Be familiar with the curation process, from the bioinformatics pipeline through to clinical application
• Appreciate the importance of phenotyping and be able to curate and manage gene lists
• Be able to utilise population variant databases and in-silico software to assess functional effects and potential pathogenicity of variants
• Be able to curate variants and apply findings in a clinical setting

Presenters

• Dr Natalie Thorne (clinical bioinformatician)
• Dr Sebastian Lunke (senior medical scientist)
• Lyndon Gallacher (genetic counsellor)

Program

Day 1 (Thursday 23 August 2018)

Public Lectures 8am-11.30am: Genetics and genomics primer, bioinformatics, curation, in-silico scores and conservation, variant classification.

Practical Workshops* 11.30am-5.30pm (BYO laptop): Searching population and locus specific databases; In-silico prediction scores; variant filtering and prioritisation; gene list curation and management; assessing functional effects of variants, curation exercise / instructive case study.

Day 2 (Friday 24 August 2018)

Public Lectures 8.30am-11am: The importance of phenotyping; genomic testing in diagnosis and management; the role of genomic counselling; WES and WGS reporting; additional and incidental findings; cancer genomics curation.

Practical Workshops* 11am-5pm (BYO laptop): Simple cases (groups); complex cases (groups); curation exercise and evaluation; clinical genomics testing Q&A.

*The morning lectures are open to all, but workshop places are strictly limited and interested people must apply to attend the workshops.

Through the support of the Queensland Genomics Health Alliance and Melbourne Genomics Health Alliance, there is no cost to attend.

For further information please contact: communications@qgha.org