The Medical Genome Reference Bank: a whole genome data resource of 4,000 healthy elderly individuals.
Allele frequency data from human reference populations is of increasing value for filtering and assignment of pathogenicity to genetic variants. Aged and healthy populations are more likely to be selectively depleted of pathogenic alleles, and therefore particularly suitable as a reference populations for the major diseases of clinical and public health importance. However, reference studies of the healthy elderly have remained under represented in human genetics. We have developed the Medical Genome Reference Bank (MGRB), a large scale comprehensive whole genome dataset of confirmed healthy elderly individuals, to provide a publicly accessible resource for health related research, and for clinical genetics. It also represents a useful resource for studying the genetics of healthy aging. The MGRB comprises 4,000 healthy, older individuals with no reported history of cancer, cardiovascular disease or dementia, recruited from two Australian community based cohorts. DNA derived from blood samples will be subject to whole genome sequencing. The MGRB will measure genome wide genetic variation in 4,000 individuals, mostly of European decent, aged 60 to 95 years (mean age 75 years). The MGRB has committed to a policy of data sharing, employing a hierarchical data management system to maintain participant privacy and confidentiality, whilst maximizing research and clinical usage of the database. The MGRB will represent a dataset of international significance, broadly accessible to the clinical and genetic research community.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001004940 | 2570 | ||
EGAD00001005095 | 1440 | ||
EGAD00001005228 | 2572 |
Publications | Citations |
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Prevalence and disease predisposition of p.A91V perforin in an aged population of European ancestry.
Blood 135: 2020 582-584 |
5 |
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Nat Commun 11: 2020 435 |
41 |
A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells.
Cell Biosci 11: 2021 205 |
4 |
Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of <i>FMR1</i> Premutation Allele Involvement in Autism Spectrum Disorder.
Genes (Basel) 14: 2023 1518 |
0 |
Polygenic prediction of human longevity on the supposition of pervasive pleiotropy.
Sci Rep 14: 2024 19981 |
0 |
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Genome Med 16: 2024 119 |
0 |