The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal Article |
| Language: | English |
| Published: |
2020
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| Subjects: | |
| Online Access: | http://purl.org/au-research/grants/nhmrc/334047 http://hdl.handle.net/20.500.11937/80061 |
| _version_ | 1848764152434130944 |
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| author | Pinese, M. Lacaze, P. Rath, E.M. Stone, A. Brion, M.J. Ameur, A. Nagpal, S. Puttick, C. Husson, S. Degrave, D. Cristina, T.N. Kahl, V.F.S. Statham, A.L. Woods, R.L. McNeil, J.J. Riaz, M. Barr, M. Nelson, M.R. Reid, Christopher Murray, A.M. Shah, R.C. Wolfe, R. Atkins, J.R. Fitzsimmons, C. Cairns, H.M. Green, M.J. Carr, V.J. Cowley, M.J. Pickett, H.A. James, P.A. Powell, J.E. Kaplan, W. Gibson, G. Gyllensten, U. Cairns, M.J. McNamara, M. Dinger, M.E. Thomas, D.M. |
| author_facet | Pinese, M. Lacaze, P. Rath, E.M. Stone, A. Brion, M.J. Ameur, A. Nagpal, S. Puttick, C. Husson, S. Degrave, D. Cristina, T.N. Kahl, V.F.S. Statham, A.L. Woods, R.L. McNeil, J.J. Riaz, M. Barr, M. Nelson, M.R. Reid, Christopher Murray, A.M. Shah, R.C. Wolfe, R. Atkins, J.R. Fitzsimmons, C. Cairns, H.M. Green, M.J. Carr, V.J. Cowley, M.J. Pickett, H.A. James, P.A. Powell, J.E. Kaplan, W. Gibson, G. Gyllensten, U. Cairns, M.J. McNamara, M. Dinger, M.E. Thomas, D.M. |
| author_sort | Pinese, M. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T11:14:49Z |
| format | Journal Article |
| id | curtin-20.500.11937-80061 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| language | eng |
| last_indexed | 2025-11-14T11:14:49Z |
| publishDate | 2020 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-800612021-01-05T08:07:08Z The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly Pinese, M. Lacaze, P. Rath, E.M. Stone, A. Brion, M.J. Ameur, A. Nagpal, S. Puttick, C. Husson, S. Degrave, D. Cristina, T.N. Kahl, V.F.S. Statham, A.L. Woods, R.L. McNeil, J.J. Riaz, M. Barr, M. Nelson, M.R. Reid, Christopher Murray, A.M. Shah, R.C. Wolfe, R. Atkins, J.R. Fitzsimmons, C. Cairns, H.M. Green, M.J. Carr, V.J. Cowley, M.J. Pickett, H.A. James, P.A. Powell, J.E. Kaplan, W. Gibson, G. Gyllensten, U. Cairns, M.J. McNamara, M. Dinger, M.E. Thomas, D.M. Aged Aged, 80 and over Cohort Studies Databases, Genetic Female Gene Frequency Genetic Predisposition to Disease Genetic Variation Genome, Human Healthy Volunteers Humans Male Middle Aged Mitochondria Neoplasms Physical Functional Performance Polymorphism, Single Nucleotide Whole Genome Sequencing 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. 2020 Journal Article http://hdl.handle.net/20.500.11937/80061 10.1038/s41467-019-14079-0 eng http://purl.org/au-research/grants/nhmrc/334047 http://purl.org/au-research/grants/nhmrc/1127060 http://purl.org/au-research/grants/nhmrc/1067137 http://purl.org/au-research/grants/nhmrc/1147644 http://purl.org/au-research/grants/nhmrc/1051672 http://purl.org/au-research/grants/nhmrc/1104364 http://purl.org/au-research/grants/nhmrc/1121474 http://creativecommons.org/licenses/by/4.0/ fulltext |
| spellingShingle | Aged Aged, 80 and over Cohort Studies Databases, Genetic Female Gene Frequency Genetic Predisposition to Disease Genetic Variation Genome, Human Healthy Volunteers Humans Male Middle Aged Mitochondria Neoplasms Physical Functional Performance Polymorphism, Single Nucleotide Whole Genome Sequencing Pinese, M. Lacaze, P. Rath, E.M. Stone, A. Brion, M.J. Ameur, A. Nagpal, S. Puttick, C. Husson, S. Degrave, D. Cristina, T.N. Kahl, V.F.S. Statham, A.L. Woods, R.L. McNeil, J.J. Riaz, M. Barr, M. Nelson, M.R. Reid, Christopher Murray, A.M. Shah, R.C. Wolfe, R. Atkins, J.R. Fitzsimmons, C. Cairns, H.M. Green, M.J. Carr, V.J. Cowley, M.J. Pickett, H.A. James, P.A. Powell, J.E. Kaplan, W. Gibson, G. Gyllensten, U. Cairns, M.J. McNamara, M. Dinger, M.E. Thomas, D.M. The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly |
| title | The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly |
| title_full | The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly |
| title_fullStr | The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly |
| title_full_unstemmed | The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly |
| title_short | The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly |
| title_sort | medical genome reference bank contains whole genome and phenotype data of 2570 healthy elderly |
| topic | Aged Aged, 80 and over Cohort Studies Databases, Genetic Female Gene Frequency Genetic Predisposition to Disease Genetic Variation Genome, Human Healthy Volunteers Humans Male Middle Aged Mitochondria Neoplasms Physical Functional Performance Polymorphism, Single Nucleotide Whole Genome Sequencing |
| url | http://purl.org/au-research/grants/nhmrc/334047 http://purl.org/au-research/grants/nhmrc/334047 http://purl.org/au-research/grants/nhmrc/334047 http://purl.org/au-research/grants/nhmrc/334047 http://purl.org/au-research/grants/nhmrc/334047 http://purl.org/au-research/grants/nhmrc/334047 http://purl.org/au-research/grants/nhmrc/334047 http://hdl.handle.net/20.500.11937/80061 |