Clinical Variant Curator - Kinghorn Centre for Clinical Genomics
Job No:
GC286
Location:
Darlinghurst
At Garvan our research is focused upon understanding the role of genes and molecular and cellular processes in health and disease as the basis for developing future preventions, treatments and cures. Our scientists are researchers who work towards making significant breakthroughs in scientific discovery to positively impact human health.
The Opportunity
We are now seeking an experienced Clinical Variant Curator to assist the clinical and developmental operations of the Genomics Laboratory in the Kinghorn Centre for Clinical Genomics to accurately identify and precisely classify variants/mutations. Using information from existing databases, and from literature, this specialist will work within a team to help identify and assess genetic variant(s) in an individual as pathogenic or not. This position will report in to the Principal Scientist - KCCG and is offered on either a part time or full time basis for the right candidate.
To be successful in this position, you will be an analytical thinker with a strong background in Human Genetics who is motivated by being part of the entrepreneurial and dynamic culture of the KCCG. You will be strong collaborator who thrives in a culture of innovation and empowerment. You will also possess the following key skills and attributes:
- A PhD in Life Sciences (Molecular Biology/Genetics) or specialist qualification in human genetics (e.g. FHGSA)
- Familiarity with germline databases, Sanger sequencing, and next-generation sequencing (NGS) experience preferred.
- Experience with variant assessment, classification, curation and assignment of pathogenicity
- A Strong scientific background in biology, molecular mechanisms and functional studies of genes and proteins
- Ability to critically read, understand, and interpret data from scientific publications
- Broad experience with databases, managing data, and general computational skills
- Highly developed written and verbal communications skills
- Acute research and analytic skills
- Strong project management skills
About the Institute:
The Kinghorn Centre for Clinical Genomics is the largest genome sequencing facility in the Southern Hemisphere. It features state-of-the-art sequencing, laboratory automation and high performance computing infrastructure, including the Illumina HiSeq X-Ten. With capacity to sequence up to 18,000 whole human genomes per year, KCCG is Australia’s premium provider of whole genome sequencing.
The primary focus of KCCG is to produce and market a state-of-the-art genomic pathology service. This will revolutionise research into human diversity and the causes of disease. It will also permit diagnostic and prognostic sequencing with the capacity to transform individual lives, the health system and the economy.
How to apply
Please submit your application by visiting our career site: www.garvan.org.au/careers
In addition to your CV and cover letter please also attach relevant qualifications.