Whole exome sequencing routinely fails to adequately analyze large segments of DNA
These variations in the genome make people unique and different, but some of these differences can lead to disease. Hence, the researchers wanted to identify which genes make people sick and which do not.
By studying about 2,570 healthy adults in Australia, who were free from diseases such as neurodegenerative disease, cardiovascular disease, and cancer until the age of at least 70, the researchers have a new baseline and a more statistically powerful framework to identify disease-causing gene variants.
For example, the team studied genomes of prostate cancer patients and discovered that by using the MGRB as a control, it provided a 25-percent higher predictive power of disease-linked gene variants, than other genome databases. Detecting genetic changes linked to aging
The researchers used whole-genome sequencing to determine the biological age from DNA and to detect changes tied to aging, such as less mitochondrial DNA, caps at the end of chromosomes, or having shorter telomeres.
The amount of mitochondrial DNA, which codes for the energy generators of cells, has been linked to higher grip strength in men. The scientists were able to find certain genome changes that could distinguish between healthy older adults that share the same age but have varying physical function. The findings of the study hint that the DNA in a person’s blood sample may provide a marker for their biological age than their chronological age.
“The ability to derive a measure of biological age may better predict health outcomes for individuals. As our population ages, understanding the genetic basis for healthy aging will become more and more important," Professor David Thomas, Garvan Cancer Research Theme Leader and Director of The Kinghorn Cancer Centre, said.
The MGRB will contain genomic information from more than 4,000 older adults in Australia once it’s completed. Journal reference:
Pinese, M., Lacaze, P., Rath, E.M. et al. The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly. Nat Commun 11, 435 (2020). https://doi.org/10.1038/s41467-019-14079-0, https://www.nature.com/articles/s41467-019-14079-0