Centre for Population Genomics
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Gene Function

Using naturally occurring genetic variation to explore the function of human genes

Creating the world’s largest whole-genome and single-cell RNA-seq cohort

We are working with Professor Joseph Powell (Garvan), Professor Alex Hewitt (University of Tasmania) and Professor Gemma Figtree (University of Sydney) to establish the largest cohort of individuals with both whole-genome sequencing and single-cell RNA-sequencing data ever generated, currently spanning over 1,800 people.

This dataset enables us to explore how genetic differences between individuals control gene activity in various cell types, crucial for understanding disease mechanisms and future drug development.

Understanding human loss-of-function variants

Naturally occurring genetic changes that break genes - called loss-of-function (LoF) variants - provide a powerful tool for understanding human gene function in health and disease. As a result, these changes are widely studied by pharmaceutical companies investigating the potential safety and efficacy of new drug targets.

Our team is curating the largest collection of LoF variants ever studied, spanning approximately 20,000 variants from both public and private datasets, as part of two industry-funded projects involving over 10 pharmaceutical industry partners, Open Targets and Genes & Health.

This lays the groundwork for future studies on the health impacts of LoF variants and supports the development of targeted therapeutics.

The Centre for Population Genomics is a joint national initiative of Garvan Institute of Medical Research and the Murdoch Children’s Research Institute. The Institutes are national leaders in genomic research, with complementary strengths spanning large-scale genomics, data science, population health, and clinical impact.

The Centre for Population Genomics values diversity in our team and our work. We believe that including all human diversity in genomic research will empower medical care that benefits everyone.

We pay our respect to all Aboriginal and Torres Strait Islander cultures and to their Elders past and present. We gratefully accept the invitation in the Uluru Statement from the Heart “to walk with us in a movement of the Australian people for a better future”.

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