The Medical Genome Reference Bank nears completion

The Medical Genome Reference Bank (MGRB), a comprehensive data set of 4000 healthy elderly Australians’ genomes, is almost complete.
09 January 2019

It can be challenging to tell whether newly identified genomic variants are truly disease causing, or are harmless population variation. This is particularly true with rare diseases, where there simply are not enough genomes to investigate and compare.

Information from the MGRB cohort can act as a powerful filter to help solve this issue, as well as provide insights into healthy ageing. It is made up of the genomes of the “wellderly”, people over the age of 70 who do not have heart disease, cancer, or dementia and therefore are likely to have fewer damaging genetic variants.

KCCG’s Genome Informatics team built Vectis, the software platform that supports the MGRB. Vectis is an integrated genomics platform that supports the housing, querying, and analysis of genomic data from large cohorts.

MGRB data is shared on this platform through two main tiers. The first tier is made available to all users and includes summary statistics of the entire MGRB cohort. The second tier requires users to apply for access, with approved users getting access to seven fields of clinical information. This responsible data sharing approach implements current best-practices and ensures that MGRB information can be used to advance research, discovery and clinical work worldwide.

The MGRB includes genomic information from participants in the ASPREE (ASPirin in Reducing Events in the Elderly) study (Monash University, Melbourne) and the 45 and Up study (Sax Institute, Sydney).

Its development was funded by NSW Health, through the Office of Health and Medical Research, as one of the three major projects within the Sydney Genomics Collaborative.

You can read more about the MGRB on Garvan news or in a recent paper published in the European Journal of Human Genetics.