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

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 and David M. Thomas ()
Additional contact information
Mark Pinese: Garvan Institute of Medical Research
Paul Lacaze: Monash University
Emma M. Rath: Garvan Institute of Medical Research
Andrew Stone: Garvan Institute of Medical Research
Marie-Jo Brion: Garvan Institute of Medical Research
Adam Ameur: Monash University
Sini Nagpal: Georgia Institute of Technology
Clare Puttick: Garvan Institute of Medical Research
Shane Husson: Garvan Institute of Medical Research
Dmitry Degrave: Garvan Institute of Medical Research
Tina Navin Cristina: Sax Institute
Vivian F. S. Kahl: University of Sydney
Aaron L. Statham: Garvan Institute of Medical Research
Robyn L. Woods: Monash University
John J. McNeil: Monash University
Moeen Riaz: Monash University
Margo Barr: University of New South Wales
Mark R. Nelson: Monash University
Christopher M. Reid: Monash University
Anne M. Murray: Hennepin Healthcare
Raj C. Shah: Rush University Medical Center
Rory Wolfe: Monash University
Joshua R. Atkins: The University of Newcastle
Chantel Fitzsimmons: The University of Newcastle
Heath M. Cairns: The University of Newcastle
Melissa J. Green: University of New South Wales
Vaughan J. Carr: University of New South Wales
Mark J. Cowley: Garvan Institute of Medical Research
Hilda A. Pickett: University of Sydney
Paul A. James: Peter MacCallum Cancer Centre
Joseph E. Powell: University of New South Wales
Warren Kaplan: Garvan Institute of Medical Research
Greg Gibson: Georgia Institute of Technology
Ulf Gyllensten: Uppsala University
Murray J. Cairns: The University of Newcastle
Martin McNamara: Sax Institute
Marcel E. Dinger: Garvan Institute of Medical Research
David M. Thomas: Garvan Institute of Medical Research

Nature Communications, 2020, vol. 11, issue 1, 1-14

Abstract: 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.

Date: 2020
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-019-14079-0

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DOI: 10.1038/s41467-019-14079-0

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