Variant Curator

2 weeks ago


Parkville, Australia Murdoch Childrens Research Institute Full time

**Role Type**: 2 year full time contract
**Salary**: $89,000 - $104,066 per annum plus superannuation

Join Our Team - Research Assistant (Variant Curator)

What’s in it for you?

**Cutting-edge Science**: Immerse yourself in the forefront of genomic science, contributing to groundbreaking projects with a team of skilled professionals
**Collaborative Environment**: Work alongside experts with diverse skill sets, fostering an environment where teamwork and shared outcomes take precedence
**Professional Growth**: Evaluate your success based on team outcomes, providing a unique opportunity for professional development beyond traditional academic metrics
**Boost Your Take-Home Pay**: Take control of your finances by exploring salary packaging options that allow you to optimise your earnings
**Remote or On-Site**: This position offers flexibility, allowing you to work either at the MCRI in Melbourne, the Garvan Institute in Sydney, or remotely from anywhere in Australia

**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

**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

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

**Applications close**: 11th March 2024 AUS Eastern Daylight time