Medical Genome Reference Bank

One of the key challenges in the interpretation of whole genome sequencing for the diagnosis of inherited disease is in the discrimination of a single or small number of disease-causing variants from large numbers of non-disease causing variants.

To facilitate accurate diagnosis of and discovery of new genetic variants underpinning disease, the Medical Genome Reference Bank (MGRB) Program will sequence and analyse the genomes from ~4,000 healthy, older individuals to create a high quality database that is depleted of damaging genetic variants.

Funded by the NSW State Government, the MGRB leverages the Illumina Hiseq X Ten sequencing platform at the Garvan Institute’s Kinghorn Centre for Clinical Genomics (KCCG). Participants in the 45 and Up (Sax Institute) and Aspirin in Reducing Events in the Elderly (ASPREE) (Monash University) studies will be sequenced to provide a resource of lasting value for national and international health and medical researchers.