Roadmap to integrate Indigenous genome assemblies into a national instance of the international human reference genome resource.

The human genome reference sequence provides the spatial coordinates that underpin all human genomic and epigenomic research. Managed by the GRC, it is the foundation of much of modern biomedical research and, increasingly, clinical practice. Over the next few years, it will be transformed from its current linear form to a graphical representation of the diversity of human ancestry. This change will address current inequity and lack of inclusion resulting from primarily European representation.

NCIG (with NHMRC funding) is creating genome assemblies from Indigenous Australians required for their inclusion in this enterprise. This proposal is to develop a roadmap for how the outcomes of this research can be developed for incorporation in the pan-human reference graph.

The project will address quality and data/metadata standards, data curation, methodological and analytical, hosting and Indigenous governance requirements, validation and documentation systems, proficiency testing, staffing, training and education requirements, participant involvement, accessibility, national coordination and international engagement.