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The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly


Pinese, M and Lacaze, P and Rath, EM and Stone, A and Brion, M-J and Ameur, A and Nagpal, S and Puttick, C and Husson, S and Degrave, D and Cristina, TN and Kahl, VFS and Statham, AL and Woods, RL and McNeil, JJ and Riaz, M and Barr, M and Nelson, MR and Reid, CM and Murray, AM and Shah, RC and Wolfe, R and Atkins, JR and Fitzsimmons, C and Cairns, HM and Green, MJ and Carr, VJ and Cowley, MJ and Pickett, HA and James, PA and Powell, JE and Kaplan, W and Gibson, G and Gyllensten, U and Cairns, MJ and McNamara, M and Dinger, ME and Thomas, DM, The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly, Nature Communications, 11, (1) Article 435. ISSN 2041-1723 (2020) [Refereed Article]


Copyright Statement

The Author(s) 2020. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1038/s41467-019-14079-0


Population health research is increasingly focused on the genetic determinants of healthy ageing, but there is no public resource of whole genome sequences and phenotype data from healthy elderly individuals. Here we describe the first release of the Medical Genome Reference Bank (MGRB), comprising whole genome sequence and phenotype of 2570 elderly Australians depleted for cancer, cardiovascular disease, and dementia. We analyse the MGRB for single-nucleotide, indel and structural variation in the nuclear and mitochondrial genomes. MGRB individuals have fewer disease-associated common and rare germline variants, relative to both cancer cases and the gnomAD and UK Biobank cohorts, consistent with risk depletion. Age-related somatic changes are correlated with grip strength in men, suggesting blood-derived whole genomes may also provide a biologic measure of age-related functional deterioration. The MGRB provides a broadly applicable reference cohort for clinical genetics and genomic association studies, and for understanding the genetics of healthy ageing.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Clinical sciences
Research Field:Geriatrics and gerontology
Objective Division:Health
Objective Group:Specific population health (excl. Indigenous health)
Objective Field:Health related to ageing
UTAS Author:Nelson, MR (Professor Mark Nelson)
ID Code:138889
Year Published:2020
Web of Science® Times Cited:29
Deposited By:Menzies Institute for Medical Research
Deposited On:2020-05-08
Last Modified:2021-03-24
Downloads:12 View Download Statistics

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