| Autor: |
Lacaze P; Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia. paul.lacaze@monash.edu., Pinese M; Garvan Institute of Medical Research, Sydney, NSW, Australia. m.pinese@garvan.org.au.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia. m.pinese@garvan.org.au., Kaplan W; Garvan Institute of Medical Research, Sydney, NSW, Australia., Stone A; Garvan Institute of Medical Research, Sydney, NSW, Australia., Brion MJ; Garvan Institute of Medical Research, Sydney, NSW, Australia., Woods RL; Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia., McNamara M; Sax Institute, Sydney, NSW, Australia., McNeil JJ; Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia., Dinger ME; Garvan Institute of Medical Research, Sydney, NSW, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia., Thomas DM; Garvan Institute of Medical Research, Sydney, NSW, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia. |
| Abstrakt: |
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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