Genomics England partners with the NHS to enable whole genome sequencing diagnostics. Our aim is to improve genomic healthcare and contribute to scientific research.
We focus on identifying new genetic factors related to disease, particularly rare diseases and cancer. We do that by utilising statistical methods for analyzing large-scale genomic data and other modalities such as protein abundance and gene expression data from proteomics and transcriptomics assays, respectively. By doing that, we aim to better understand how diseases develop and progress. In the process, we refine our clinical interpretation pipelines for the identification of disease-causing variants on individuals from diverse genetic backgrounds and improve healthcare for everyone.
We will use our National Genome Research library alongside the UK Biobank multimodal data. Our aim is to support our joint missions to advance modern medicine and treatment through scientific discovery.
We aim to identify novel determinants of human health and biomarkers of clinical course, compare statistical association results across disease and trait domains for replication and undertake joint analysis, and share novel discoveries with the scientific community.