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

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Pinese, M, Lacaze, P, Rath, EM, Stone, A, Brion, M-J, Ameur, A, Nagpal, S, Puttick, C, Husson, S, Degrave, D, Cristina, TN, Kahl, VFS, Statham, AL, Woods, RL, McNeil, JJ, Riaz, M, Barr, M, Nelson, MR ORCID: 0000-0001-9941-7161, Reid, CM, Murray, AM, Shah, RC, Wolfe, R, Atkins, JR, Fitzsimmons, C, Cairns, HM, Green, MJ, Carr, VJ, Cowley, MJ, Pickett, HA, James, PA, Powell, JE, Kaplan, W, Gibson, G, Gyllensten, U, Cairns, MJ, McNamara, M, Dinger, ME and Thomas, DM 2020 , 'The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly' , Nature Communications, vol. 11, no. 1 , pp. 1-14 , doi: 10.1038/s41467-019-14079-0.

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Abstract

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

Item Type: Article
Authors/Creators: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
Journal or Publication Title: Nature Communications
Publisher: Nature Pub. Group
ISSN: 2041-1723
DOI / ID Number: 10.1038/s41467-019-14079-0
Copyright Information:

© The Author(s) 2020. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0) http://creativecommons.org/licenses/by/4.0/

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