Clinical Bioinformatician, NSW

Position title: Clinical Bioinformatician

Employer: NSW Health Pathology/Mackenzie’s Mission and CRE in Neurocognitive Disorders (CRE-NCD)

Closing date: 1st March, 2019

Brief position description: The NSW Health Pathology Randwick Genetics Laboratory is one of the major Australian centres for genetic diagnostics, providing a comprehensive genome diagnostic service in a consultative pathology context. The laboratory is recognised as a training site by both the HGSA and RCPA for advanced training in laboratory genetics for both scientific and medical personnel. NSW Health Pathology Randwick Genetics Laboratory has held continuous accreditation from NATA/RCPA since 1988, providing testing compliant with the ISO 15189 and ISO 9001 Standards and NPAAC Requirements. 
Mackenzie's Mission is a large-scale reproductive carrier screening pilot study which will screen 10,000 couples across Australia for ~500 rare and debilitating genetic disorders including spinal muscular atrophy (SMA), fragile X syndrome and cystic fibrosis (CF).
The CRE-NCD, based at Neuroscience Research Australia, is a five year-funded NHMRC centre that aims to transform the diagnosis and management of intellectual disability (also known as neurocognitive disorders) through whole exome sequencing (WES) and whole genome sequencing (WGS). 
This position will support the molecular genetics laboratory, Mackenzie's Mission and the CRE-NCD by assisting with clinical bioinformatics requirements for the analysis of next generation sequencing (NGS) data, implementation and maintenance of pipelines around design, performance, validation and quality control. The clinically targeted NGS panels, exomes or genomes and bioinformatics pipelines require embedded bioinformatic expertise. The ability to perform NGS data analysis using computer programming and Unix-based servers is required. The successful candidate will be working closely with wet lab scientists, clinicians and pathologists, genomic analysts, and other bioinformaticians/software developers.
We are seeking an experienced and motivated Bioinformatician interested in applying their skills in a clinical setting and able to work both independently and as part of a team. This is a full time position, fixed term three years.
For further information about this opportunity, please review the position description or contact us for a confidential discussion.

Job website:

Contact name: Tony Roscioli

Contact email:

Contact name: Edwin Kirk

Contact email: