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

Author

Listed:
  • Mark Pinese

    (Garvan Institute of Medical Research
    University of New South Wales
    University of New South Wales)

  • Paul Lacaze

    (Monash University)

  • Emma M. Rath

    (Garvan Institute of Medical Research)

  • Andrew Stone

    (Garvan Institute of Medical Research
    University of New South Wales
    University of New South Wales
    University of New South Wales)

  • Marie-Jo Brion

    (Garvan Institute of Medical Research)

  • Adam Ameur

    (Monash University
    Uppsala 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
    University of Tasmania)

  • Christopher M. Reid

    (Monash University
    Curtin University)

  • Anne M. Murray

    (Hennepin Healthcare
    Hennepin County Medical Center and University of Minnesota)

  • Raj C. Shah

    (Rush University Medical Center)

  • Rory Wolfe

    (Monash University)

  • Joshua R. Atkins

    (The University of Newcastle
    Hunter Medical Research Institute)

  • Chantel Fitzsimmons

    (The University of Newcastle
    Hunter Medical Research Institute)

  • Heath M. Cairns

    (The University of Newcastle
    Hunter Medical Research Institute)

  • Melissa J. Green

    (University of New South Wales
    Neuroscience Research Australia)

  • Vaughan J. Carr

    (University of New South Wales
    Neuroscience Research Australia
    Monash University)

  • Mark J. Cowley

    (Garvan Institute of Medical Research
    University of New South Wales
    University of New South Wales)

  • Hilda A. Pickett

    (University of Sydney)

  • Paul A. James

    (Peter MacCallum Cancer Centre
    University of Melbourne)

  • Joseph E. Powell

    (University of New South Wales
    Garvan Institute of Medical Research)

  • Warren Kaplan

    (Garvan Institute of Medical Research
    University of New South Wales)

  • Greg Gibson

    (Georgia Institute of Technology)

  • Ulf Gyllensten

    (Uppsala University)

  • Murray J. Cairns

    (The University of Newcastle
    Hunter Medical Research Institute)

  • Martin McNamara

    (Sax Institute)

  • Marcel E. Dinger

    (Garvan Institute of Medical Research
    University of New South Wales)

  • David M. Thomas

    (Garvan Institute of Medical Research
    University of New South Wales)

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.

Suggested Citation

  • 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., 2020. "The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly," Nature Communications, Nature, vol. 11(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-019-14079-0
    DOI: 10.1038/s41467-019-14079-0
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    Cited by:

    1. Michel S. Naslavsky & Marilia O. Scliar & Guilherme L. Yamamoto & Jaqueline Yu Ting Wang & Stepanka Zverinova & Tatiana Karp & Kelly Nunes & José Ricardo Magliocco Ceroni & Diego Lima Carvalho & Carlo, 2022. "Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil," Nature Communications, Nature, vol. 13(1), pages 1-11, December.

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