By the end of this workshop, participants will:

  • Be familiar with genetics and genomics, including variant nomenclature and inheritance.
  • Be aware of the utility of genomic testing in clinical practice.
  • Understand when single gene, gene panel or genomic testing are indicated.
  • Appreciate the complexity of variant classification.
  • Be familiar with the curation process, from the bioinformatics pipeline through to clinical application.
  • Be able to apply variant filtering processes.
  • 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 utilise software and databases, such as LOVD and IGV in variant curation
  • Be able to curate variants and apply findings in a clinical setting.
  • Be aware of ethical implications and need for informed consent in genomic testing.
  • Be aware of the curation process for cancer variants.
  • Understand ‘Additional Findings’ and ‘Incidental Findings’ in genomic testing.

Register for Day 1 Public Lectures Eventbrite page
Register for Day 2 Public Lectures Eventbrite page
Registration closes: 17 August 2018

Complete the online form to apply to be a workshop participant (all day both days 23 - 24 August)
Applications for workshop component closes: 1 August 2018

About An Introduction to Variant Curation

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)

Venue

QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston