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

Abstract

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.

Type Journal
Authors Mark Pinese, Paul Lacaze, Emma M. Rath, Andrew Stone, Marie-Jo Brion, Adam Ameur, Sini Nagpal, Clare Puttick, Shane Husson, Dmitry Degrave, Tina Navin Cristina, Vivian F. S. Kahl, Aaron L. Statham, Robyn L. Woods, John J. McNeil, Moeen Riaz, Margo Barr, Mark R. Nelson, Christopher M. Reid, Anne M. Murray, Raj C. Shah, Rory Wolfe, Joshua R. Atkins, Chantel Fitzsimmons, Heath M. Cairns, Melissa J. Green, Vaughan J. Carr, Mark J. Cowley, Hilda A. Pickett, Paul A. James, Joseph E. Powell, Warren Kaplan, Greg Gibson, Ulf Gyllensten, Murray J. Cairns, Martin McNamara, Marcel E. Dinger & David M. Thomas
Responsible Garvan Author Prof David Thomas
Publisher Name Nature Communications
Published Date 2020-01-23
Published Volume 11
Published Issue 1
Published Pages 435
Status Published in-print
DOI 10.1038/s41467-019-14079-0
URL link to publisher's version https://doi.org/10.1038/s41467-019-14079-0