Medical Genome Reference Bank (MGRB) gVCF output

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. The Medical Genome Reference Bank (MGRB) is 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 was used for whole genome sequencing on Illumina HiSeqX instruments. The MGRB will measure genome wide genetic variation in 4,000 individuals, mostly of European descent, 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 maximising research and clinical usage of the database. The MGRB represents a dataset of international significance, broadly accessible to the clinical and genetic research community. This dataset includes the Medical Genome Reference Bank (MGRB) gVCF output.