Dr Andre Reis

A long-read nanopore sequencing platform for Indigenous genomics

This presentation highlights the application of long-read sequencing (LRS) technologies in exploring the rich and unique genomic diversity of Indigenous Australians. Historically underrepresented in genomic research, Aboriginal and Torres Strait Islander ancestries are almost entirely absent from key reference datasets, limiting the utility of genomic medicine in these communities. Through population-scale LRS of four remote Indigenous communities, we uncovered an abundance of previously unannotated structural variants (SVs) and short tandem repeats (STRs), many of which are exclusive to Indigenous Australians and specific to individual communities. This work not only sheds light on the complex landscape of genomic variation across Australia but also establishes critical frameworks for integrating this diversity into genomic medicine, ensuring more equitable health outcomes. Our findings underscore the need for broad sampling across Indigenous populations to create comprehensive genomic reference resources that reflect the diversity and distinct genetic architecture of Indigenous Australians.

Dr Andre Reis
Bioinformatician, Garvan Institute of Medical Research

Andre is a postdoctoral researcher in the Genomic Technologies Group at the Garvan Institute of Medical Research, specialising in human genomics and bioinformatics. His work leverages cutting-edge long-read sequencing (LRS) technologies to explore genetic variation at individual and population levels and advance genomic medicine.

Andre has made significant contributions to Indigenous genomics in collaboration with the National Centre for Indigenous Genomics (NCIG), leading a groundbreaking study on structural variation in Indigenous Australians published in Nature. His research addresses the underrepresentation of Indigenous Australians in genomic databases like the 1000 Genomes Project and gnomAD, aiming to close the representation gap for equitable outcomes in genomic medicine.

In addition, Andre is involved in key projects using LRS to improve the diagnosis of rare genetic diseases. He has played a vital role in integrating structural variants (SVs) and short tandem repeats (STRs) in the RDNow initiative and UDN-Aus program, both of which focus on rapid diagnosis by integrating genomic analysis with clinical care for undiagnosed rare diseases.