Providing a genomic reference
bank of healthy aged individuals
About
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.
Pinese M, Lacaze P, Rath EM, et al. The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly. Nat Commun. 2020;11(1):435. Published 2020 Jan 23. doi:10.1038/s41467-019-14079-0 PubMed
Lacaze P, Pinese M, Kaplan W, et al. The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design. Eur J Hum Genet. 2019;27(2):308-316. doi:10.1038/s41431-018-0279-z PubMed
SYDNEY GENOMICS COLLABORATIVE