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Genome Informatician - SA Pathology

Joining the team at SA Pathology, you will contribute to the implementation of high-throughput genetic testing technologies, in particular the establishment of genome analysis pipelines, to enable application of these new technologies to diagnostic testing.  Contributing to ongoing trials of NGS platforms, you will apply your specialist knowledge of genome analysis to perform analysis of next-generation sequencing data and teach other staff within the GMP directorate in the use of software tools.  You will contribute to the validation of NGS sequencing panels by writing custom scripts to facilitate cross-platform comparison of test results, as well as establishing whole-exome analysis pipelines for screening families affected by Intellectual Disability disorders. SA Pathology provides quality pathology services to medical practitioners of South Australia and to all South Australian public hospitals through a networked system of 18 laboratories, consisting of branch laboratories in rural hospitals, general laboratories in large metropolitan hospitals and specialist laboratories providing tertiary referral and reference laboratory services.

You will hold a Bachelor of Computer Science, Bachelor of Science, Bachelor of Applied Science or equivalent, preferably with experience in bioinformatics and genome analysis. Demonstrating sound knowledge of next-generation sequencing platforms and human genome biology, you will bring the ability to produce work of a high standard within a limited time frame. Along with the ability to effectively prioritise tasks and work efficiently, you will be confident in operating under limited supervision and direction as well as working within a team environment. Job Ref: 529241.

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