Format

Send to

Choose Destination
Nat Commun. 2020 Jan 23;11(1):435. doi: 10.1038/s41467-019-14079-0.

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

Author information

1
Garvan Institute of Medical Research, Sydney, NSW, Australia.
2
Children's Cancer Institute, University of New South Wales, Sydney, NSW, Australia.
3
School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
4
Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, VIC, Australia.
5
St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
6
Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
7
Center for Integrative Genomics, Georgia Institute of Technology, Atlanta, GA, USA.
8
Sax Institute, Sydney, NSW, Australia.
9
Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia.
10
Centre for Primary Health Care and Equity, University of New South Wales, Sydney, NSW, Australia.
11
Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.
12
School of Public Health, Curtin University, Perth, WA, Australia.
13
Berman Center for Outcomes and Clinical Research, Hennepin Healthcare Research Institute, Hennepin Healthcare, Minneapolis, MN, USA.
14
Division of Geriatrics, Department of Medicine, Hennepin County Medical Center and University of Minnesota, Minneapolis, MN, USA.
15
Department of Family Medicine and Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.
16
School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia.
17
Centre for Brain and Mental Health Research, Hunter Medical Research Institute, Newcastle, NSW, Australia.
18
School of Psychiatry, University of New South Wales, Sydney, NSW, Australia.
19
Neuroscience Research Australia, Sydney, NSW, Australia.
20
Department of Psychiatry, School of Clinical Sciences, Monash University, Melbourne, VIC, Australia.
21
Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
22
Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia.
23
UNSW Cellular Genomics Futures Institute, School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia.
24
Garvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
25
School of Biotechnology and Biomolecular Sciences, Faculty of Science, University of New South Wales, Sydney, NSW, Australia.
26
Garvan Institute of Medical Research, Sydney, NSW, Australia. d.thomas@garvan.org.au.
27
St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia. d.thomas@garvan.org.au.

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.

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center