New global genome database resource
Ground-breaking study identifies more than 400 million variants in the human genome sequence which could reduce health disparities and shed new light on heart disease
13 April 2021
A gigantic new biomedical database, looking at the entire genetic makeup of 53,831 individuals, has been catalogued by more than 1000 investigators from around the world, including the Victor Chang Cardiac Research Institute’s Professor Diane Fatkin.
Professor Fatkin, and her group in the Molecular Cardiology Division, collaborated with researchers at the Massachusetts General Hospital in Boston, to investigate the genetic causes of atrial fibrillation.
The unique data (derived from individuals from diverse ethnic backgrounds), combined with 80 other studies, has been used to create a new human genomes database for the TOPMed study.
The work has recently been published in the prestigious Nature journal.
“This is an incredible amount of information and provides new insights into the spectrum of human genetic variations at an unprecedented scale,” said Professor Fatkin.
More than 400 million variants were extracted, after several years of genome sequencing.
These rare variants provide key insights into mutational processes and recent human evolution.
The new database is set to become a valuable resource for genetics researchers worldwide, exploring diverse human traits and genetic causes for human diseases.
“Researchers who are investigating genetic causes of heart disease can use the TOPMed database to see if sequence variants found in their own patient cohorts are novel, rare, or commonly seen in the general population, and whether these variant frequencies differ according to ethnic background,” said Professor Fatkin.
“This will be incredibly useful for working out the clinical significance of variants found in research patients.”
The Victor Chang Cardiac Research Institute is the only Australian centre involved in the study.
Professor Fatkin says being published in Nature is a tribute to the high calibre of work being undertaken across the Institute.
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Acknowledgement of Country
The Victor Chang Cardiac Research Institute acknowledges Traditional Owners of Country throughout Australia and recognises the continuing connection to lands, waters and communities. We pay our respect to Aboriginal and Torres Strait Islander cultures; and to Elders past and present.
