The opportunity

Are you passionate about making a difference in the world of genetics? If so, we want you to be a part of our dynamic team!

As a member of CPG's variant analysis team, you will play a pivotal role in the systematic manual curation of genetic variants identified in population and rare disease research cohorts. Working alongside experts in clinical analysis and molecular biology, your efforts will contribute to unravelling the complexities of human genetic variation.

Key Responsibilities

• Systematic Curation: Focus on the meticulous curation of suspected loss-of-function (LoF) variants, crucial for disrupting protein-coding genes. Your work will involve sequencing large population cohorts with diverse ancestral backgrounds
• Genomic Data Analysis: Contribute to the analysis of genomic data from families affected by severe genetic diseases, collaborating with clinical geneticists and domain experts. Your insights will aid in diagnosing hundreds of families and advancing our understanding of human gene function.

Join us for an exciting opportunity with a 2-year full-time contract that allows you to choose where you work – be it the vibrant city of Melbourne at the MCRI, the bustling hub of Sydney at the Garvan Institute, or the comfort of your own home anywhere in Australia!

If you're ready to be a part of a team that is making a difference, apply now!

About you

• Undergraduate education in genetics, bioinformatics, molecular biology, genetic counselling or a related field
• Ideally, some experience with the assessment of variant quality from short-read DNA sequencing data
• Direct experience with interpretation of genetic variants in a research or clinical setting is preferred but not required
• A combination of patience and strong attention to detail: willing and able to perform the complex and intellectually demanding task of variant interpretation at a large scale

For more information regarding responsibilities and requirements please refer to the to the position description. Any specific questions related to this position should be directed to Natasha Tamasese at [email protected] using the subject line: Variant Curator / Research Assistant enquiry via EthicalJobs.

Who we are

At Murdoch Children’s Research Institute, we share a powerful vision; to re-imagine the future of child health. We are the home to many life-changing scientific discoveries. 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. Murdoch Children’s is committed to creating a culture of inclusivity, equity and respect that celebrates and values the diverse backgrounds and experiences of our people. We strive to foster a positive working environment that is underpinned by equal opportunity for all and consideration for the diverse voices of our people and the communities we serve. Murdoch Children’s is a proud member of the Australian Network on Disability and is a committed subscriber to Science Australia Gender Equity (SAGE) and its principles.

Join us!

We welcome individuals of diverse genders, ages, ethnicities, cultural backgrounds, abilities, religions, and sexual orientations in our workplace. We actively encourage talented individuals from all walks of life to apply for our job openings. Our commitment lies in fostering a workplace that is barrier-free and inclusive, aiming to attract the most skilled candidates. If you need reasonable adjustments, reach out to [email protected], including your name and contact details for a confidential discussion. Please title your email Reasonable Adjustments Request.

If you feel this role is right for you, please apply with a copy of your resume via the "Apply Now" button.

Please note you are not required to respond to the selection in the position description.

For any questions related to the recruitment process, feel free to reach out to our Recruitment team at [email protected]. Ensure that you include the position number and job title in the subject line. Please refrain from sharing your application to this email address.

Please note, we reserve the right to close the vacancy prior to the closing date once a sufficient number of applications have been received.

A position description is attached.