Approved Research

Performance of regional enrichment methods using exome data from the UK Biobank

Lay summary

The genomic era is defined by the ability to sequence an individual's deoxyribonucleic acid (DNA) rapidly and in a cost efficient manner. This has led to the creation of large data sets where hundreds of thousands of individuals have had their DNA sequenced. The initial DNA sequencing was designed to capture the most amount of genetic variation by only sequencing a small number of points in the genome; the human genome is three billion data points long and initial sequencing targeted roughly one million of them. Now, through extensive research of these initial sequencing data sets, it has become clear that sequencing of more genomic data points can add benefit to medical research. Specifically, new sequencing of the regions in an individual genome that encode functional proteins ("genes" or "exomes") stand to add an abundance of information for researchers to use in identify the link between how genetics shape human health. Our research focuses on statistical testing of each gene, and the patterns of variation that lie within it, in order to identify which genes are contributing to which human traits (e.g. height related genes, Crohn's disease related genes). The methods that we use have not been widely applied to data that extensively sequencing each point of an individual's set of exomes. We believe that inclusion of more genetic data points will help our methods to identify new patterns of variation that shed light on what genes are affecting the development of particular traits.