How new UKBiobank data can help you to move your PHd projects forward

Hugely increased scope for development of Genome-Wide Association Studies

Most GWAS require very large sample sizes to identify reproducible genome-wide significant associations. Data from whole-genome sequencing from 500,000 participants offers a clearer picture of the variants that don't code for proteins and how different genes are expressed.

In addition, more advanced technology can identify variants in the non-coding regions, as well as special structural variants. This will allow for the identification of rare non-coding variants which may have effects on disease risk.

Data linkage to EHRs, imaging data, and deep phenotype data can also be used in collaboration with whole-genome sequencing. 

Enhanced ability to carry out more extensive research into Rare Diseases

Research into Rare Diseases has remained partly hindered by the fact that such diseases only occur in a small percentage of the general population.

Genomic sequencing with the use of next-generation sequencing technologies has proven to be an alternative to locus-specific and gene-panel tests in research for establishing a new genetic basis of disease. 

With so many more participants sequenced, there is more scope to identify potential variants that cause rare diseases. Comprehensive data related to non-coding regions of the genome allow for research into how these genes are controlling the expression of proteins that might result in disease.

Cloud-based storage means no requirement for I.T. infrastructure or large downloads

This whole-genome sequencing data, plus all other data, are now globally accessible for approved researchers on the UK Biobank Research Analysis Platform. This is the first time that a globally accessible resource, plus the required computing power and storage, has been made available to researchers.

Complex analyses can be run quickly and easily, enabling a rapid move from hypothesis to insight. Researchers can use the platform's analysis and visualisation tools, or bring in their own applications.  

The Research Analysis Platform increases the scale and accessibility of a comprehensive biomedical database, removing the need for client institutions to have pre-existing I.T. infrastructure.

Expanded ability to understand more about, and develop, precision medicine

With a sample size of 500,000 people, plus data collected on over 10,000 variables (such as blood pressure, cognitive function, diet and bone density) researchers using UK Biobank will be able to drive tailored healthcare, such as investigating why those with the same genetic predisposition for a disease have different outcomes, as well as reactions and side-effects to treatments.

As the definition suggests, the power of precision medicine lies in its ability to guide health care decisions toward the most effective treatment for a given patient, and thus, improve care quality, while reducing the need for unnecessary diagnostic testing and therapies.