ArticleEuropean journal of human genetics : EJHG2019
The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- Article
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- Current state of rare disease registries and databases in Australia: a scoping review.Orphanet journal of rare diseases · 2023Article
- Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.Genome biology · 2023Article
- Low disease risk and penetrance in Leber hereditary optic neuropathy.American journal of human genetics · 2023Article
- Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.Blood advances · 2022Article
- A domain damage index to prioritizing the pathogenicity of missense variants.Human mutation · 2021Article
- Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.NPJ genomic medicine · 2021Article
- PD-1 blockade using pembrolizumab in adolescent and young adult patients with advanced bone and soft tissue sarcoma.Cancer reports (Hoboken, N.J.) · 2021Article
- Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2021Article
- ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.Genome medicine · 2021Article
- Scalability and cost-effectiveness analysis of whole genome-wide association studies on Google Cloud Platform and Amazon Web Services.Journal of the American Medical Informatics Association : JAMIA · 2020Article
- Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.Human molecular genetics · 2020Article
- The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.Nature communications · 2020Article
- Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.PloS one · 2020Article
- Sketch distance-based clustering of chromosomes for large genome database compression.BMC genomics · 2019Article
- Expanding the spectrum ofMolecular genetics and metabolism reports · 2018Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Allele frequency data from human reference populations is of increasing value for the filtering, interpretation, 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 population for the major diseases of clinical and public health importance. However, reference studies of confirmed healthy elderly individuals have remained under-represented in human genetics. Here we describe the Medical Genome Reference Bank (MGRB), a large-scale comprehensive whole-genome data set of healthy elderly individuals. The MGRB provides an accessible data resource for health-related research and clinical genetics and a powerful platform for studying the genetics of healthy ageing. The MGRB is comprised of 4000 healthy, older individuals, mostly of European descent, recruited from two Australian community-based cohorts. Each participant lived ≥70 years with no reported history of cancer, cardiovascular disease, or dementia. DNA derived from blood samples has been subject to whole-genome sequencing. The MGRB has committed to a policy of data sharing, employing a hierarchical data management system to maintain participant privacy and confidentiality, while maximising research and clinical usage of the database. The MGRB represents a resource of international significance, which will be made broadly accessible to the clinical and genetic research community.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.