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Genomic Curation Research Specialist

Murdoch Childrens Research Institute

Who Are We?

At MCRI we share a powerful vision: to re-imagine the future of child health. We are the home to many life-changing scientific discoveries. We believe that no question is too impossible to try and answer. We are renowned for our cutting-edge focus on early interventions, improved diagnosis, prevention and development of potential cures. Our success is founded on a philosophy of collaboration through a multi-disciplinary approach to solving the toughest questions in child health. MCRI is a proud member of the Australian Network on Disability. We are committed to creating a positive working environment which values all backgrounds and experiences. We strive to foster an inclusive culture that is underpinned by equal opportunity for all and a culture based on respect, consideration and dignity.

Your Opportunity:

We are looking for a Genomic Curation Research Specialist to play a key role in the success of the MRFF GHFM funded project A national large scale automated reanalysis program to increase rare disease diagnosis. The project is led by Zornitza Stark and a national team including Simon Sadedin, Sebastian Lunke and Daniel MacArthur. The project aims to increase the rate of diagnosis for patients who have undergone genomic testing by developing, implementing and evaluating a program to automate the reanalysis of existing genomic data. A core component of this role will be to inform the development of automated curation logic for variants analysed as part of the program. The successful candidate will utilise their knowledge of clinical variant curation to advise software teams and machine learning scientists regarding initial approach, as well as ongoing requirements as the system evolves. The role will also involve identifying, evaluating and cleaning appropriate source databases to input into the relevant software and machine learning approaches. In addition to assisting the development of in-house tools, the Curation Specialist will also evaluate third party options including both commercial and existing open source/research tools. This may involve direct negotiation with third parties to establish appropriate arrangements, therefore excellent engagement and communication skills are required. To be successful in this role you will be experienced in variant curation and be able to assess the outcomes of annotation, prioritisation and filtering performed by the system and feedback suggested improvements and benchmarking results. Due to the intimate connection to the software development team, it is crucial that the Curation Specialist is familiar and comfortable with software development processes and ideally will have some direct experience or skills in this area.

This is an excellent opportunity to be involved in a cutting-edge project with a team of leaders in genomic research and translation, and to contribute towards improving rare diseases diagnosis in Australia.

Your responsibilities include but are not limited to:

  • Assessing outcome of annotation, prioritisation and filtering tools for genomic variants.
  • Evaluating & providing feedback about outcomes from automated interpretation tools.
  • Contributing to/advising/guiding development of possible automation/machine learning approaches.
  • Contributing to identifying/selecting/cleaning training data sets for use in machine learning and benchmarking of approaches.
  • Evaluating the validity, accuracy, usability and clinical utility of the automated variant assessment approaches.
  • Validating selected approaches for clinical use.
  • Ensuring approaches are well designed for interfacing and integration to clinical laboratory workflows and staff.
  • Identifying existing commercial and research tools for variant annotation, prioritisation and filtering.
  • Negotiating with stakeholders for third party tools to enable evaluation and possible use in our project.
  • Ensuring software developer team and machine learning experts have clear, actionable feedback regarding success of implementations and improvements to be made.

Selection Criteria:

Essential

  • Excellent understanding of clinical variant interpretation / prioritisation and curation processes.
  • Understanding of software development principles and algorithm development.
  • Methodical and target/outcome focussed with the ability to deliver on time and budget.
  • Familiarity with clinical laboratory processes, NATA/NPAAC accreditation, legal requirements for clinical testing.
  • Understanding of research frameworks for use of genomic data (eg: privacy, ethics, consent).
  • Proven high level experience in communicating, navigating and negotiating with multiple organisations, stakeholders and professional groups from different fields and backgrounds.
  • Flexible and adaptable approach with the ability to quickly grasp and use new concepts.

Desirable

  • Familiarity with relevant concepts of machine learning.
  • Experience in a computing language (e.g. Python) and Linux/Unix environments.
  • Demonstrated experience and ability to lead and mentor employees in order to deliver project outcomes.
  • Demonstrates independent judgement, initiative and influencing skills.

What’s in it for you:

  • 12 Month Contract (Possible Extension).
  • Attractive Salary to be advised (based on experience) + Super (with Salary Packaging)
  • Part Time (19 hours per week).
  • Flexible Working Options.
  • Ongoing Career Development and Training.
  • Paid Parental Leave Scheme.
  • Health and Wellbeing Program and an Employee Assistance Program.

Apply Now!!

Download the position description . Any specific questions not answered in the position description should be directed to Simon Sadedin simon.sadedin@mcri.edu.au, using the subject line: Genomic Curation Research Specialist enquiry via EthicalJobs.

If you believe you have what we're after please click 'Apply Now' to proceed with your application. In one document only please place your:

  • Cover Letter
  • Response to Key Selection Criteria
  • Resume

If you experience technical difficulties when submitting your application, please contact recruitment@mcri.edu.au.

On occasions where we receive a large number of applications, we may close the advert ahead of the publicised closing date. We would therefore advise that you submit your completed application as soon as possible.

All applicants please be aware that in line with the Victorian Chief Health Officer’s Directions, all MCRI and VCGS workers must be fully vaccinated, unless a medical exception applies. Applicants will be required to provide their Australian Government COVID-19 Digital Immunisation Certificate/s or evidence of medical exception or evidence of vaccination booking as part of our pre-employment requirements.

We encourage applications from Aboriginal and Torres Strait Islander people, all members of the LGBTQI community and people with disability.

Should you require any specific support or adjustments please talk to us and we will be happy to accommodate.

All appointments are made subject to a satisfactory Police Check and a Working with Children check is compulsory.

Please note, applications will only be considered when submitted via the MCRI website.

Thank you for your interest in this role. We look forward to receiving your application.

Closing Date: 31 January 2022.

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