- Job posted on: 2nd Dec 2021
- Applications close:
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.
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.
Download the position description . Any specific questions not answered in the position description should be directed to Simon Sadedin email@example.com, using the subject line: Genomic Curation Research Specialist enquiry via EthicalJobs.
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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.