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Genome Biology Flagship

It is clear that Australian Indigenous communities are profoundly diverse among themselves, as well as with reference to genomes of non-Australian populations.

Work by The National Centre for Indigenous Genomics (NCIG) indicates that up to 25% of variants detected in an Australian Indigenous individual are novel when compared to reference genomes constructed among non- Indigenous populations. Further, 40% of these variants are private to that individual’s community of origin.

This has significant implications for understanding genetic diversity and the potential pathogenicity of a range of novel variants seen among Indigenous Australians – fundamental requirements for realising the benefit of precision medicine.

Determination of the pathogenicity (or otherwise) of these variants, unique signatures, and novel disease-associated variants among Indigenous Australians is central to the Flagship agenda.

Appropriate, community-specific, or at least Indigenous-specific references are likely to be a prerequisite for application of these genomic data for health benefit, whether in individual diagnosis or research into the role of genomics in health and disease in Indigenous communities.

The ACT Node team

Azure Hermes, Bastian Llamas, Graham Mann, Hardip Patel, Jason Agostino, Ray Lovett, Rebekah McWhirter, Simon Costello

ACT Node Co-ordinator: Michael He


The ACT Indigenous Governance Council members are as follows:

Caroline Hughes [Ngunnawal]

Michelle Steele   [Kamilaroi]

Simon Costello   [Quandamooka nation, Yulooburriba Noonukul & Goenpul tribes of Minjerribah, & Ngugi tribe of Mulgumpin].

Timothy Brown

Two members of the ACTIGC will attend the ALIGN National Indigenous Governance Council meetings, this will be shared amongst the committee.

Genome Biology Flagship Goals

The Genome Biology Flagship will establish the role of reference genomes and panels of variation by:

  • Empirically evaluating the required steps to secure and deploy reference resources;
  • Establishing reproducible analytical standards for genomic analysis using pan-human genome references at scale; and
  • Developing a future research agenda for the Network according to Indigenous data sovereignty and ethical principles.

The Genome Biology Flagship will begin by using the ALIGN network to establish a community of practice and standard-setting special interest group among teams who either have, or will, generate large-scale samples of whole-genome data from Indigenous Australians.

As well as pooling, driving and disseminating expertise the Genome Biology Flagship will aim to align the approaches being taken in individual projects of ALIGN members to generate new reference data and maximise collective progress.

The Genome Biology Flagship will aim to deliver a first-pass roadmap to an Australia-wide base of Indigenous reference genomes and variation panels. This will include a design and business case for the stage-gated completion of Australian Indigenous pangenomes, along with an agenda of required companion research projects.

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