Hardip Patel

National Centre for Indigenous Genomics

Large-scale projects that develop perpetual community resources, such as UK Biobank, IGSR, TCGA, IMPC, and APN play an increasingly important role in biomedical research, and precision medicine. The National Centre for Indigenous Genomics (NCIG) is similarly establishing a resource of whole genome sequence data and phased de novo assemblies from Indigenous Australians. We have sequenced ~300 genomes and generated four high quality genome assemblies so far, with many more to go. We have discovered novel variants for clinical interpretation and discovery and show that different communities have distinct genetic characteristics that requires modification of standard approaches to data analysis. Our work is strengthened by Indigenous Governance backed by federal statutory powers, with an Indigenous-majority Board that has custodianship of the samples and data. We have established a world-leading model for persistent community engagement and partnership ensuring trust and involvement of communities at all levels of our operations.

Dr. Hardip Patel

Bioinformatics Lead, National Centre for Indigenous Genomics, Australian National University

Hardip is an expert in genomics and bioinformatics focused on the use of long and short read sequencing technologies for the construction of genome assemblies and variant profiles. Currently, he is the Bioinformatics Lead for National Centre for Indigenous Genomics (NCIG), where his research focuses on the construction of Indigenous diversity inclusive genomic reference data for use in biomedical research and healthcare. NCIG is generating high quality phased de novo assemblies from Indigenous populations, which will be integrated into the international human pangenome reference resource. Similarly, NCIG is creating population variation map for Indigenous Australians from diverse communities using whole genome sequencing. Hardip is leading the efforts for creating large scale data repositories to ensure that Indigenous leadership, oversight and data sovereignty rights are maintained in genomic resources.

He has also contributed to the genome projects of Australian iconic species to describe the evolution of sex chromosomes and the olfactory receptor gene family. He is Bioinformatics co-lead for the Amphibian and Reptile Genome initiative to generate genome assemblies and annotations.

Twitter: @hardiprpatel