Background: The NIHR BioResource is trialling the use of Long Read Sequencing (LRS) using Oxford Nanopore Technologies to sequence up to 22,000 flow cells, with over 15,000 run so far. Laboratory processes were scaled up to generate 384 30x genomes every week across a range of DNA sources and quality that are processed by bioinformatic pipelines. This effort involves three large scale translational health research projects. These studies will use: 1) the Rare Disease project aims to increase diagnostic yield in participants with undiagnosed genetic disorders, 2) the UK Eating Disorders Genetics Initiative (EDGI) is the largest study of Eating Disorders in the UK, these conditions have a 45% (binge eating) to 60% (anorexia nervosa) genetic heritability and have no drugs to target their core symptoms. We hypothesise that LRS will capture novel repeat, structural variants and epigenetic variance and provide new biological insights, 3) the Genes and Cognition study is a cross-theme recallable cohort of over 21,000 participants tested with cognitive profiling in 2021 and 2024. The study will help determine age-related penetrance of known genetic risk factors for neurodegenerative disease and dementia.
Conclusions: This poster presents the cohorts and the data generated on the first 5000 participants. We illustrate the quality of the data at a sample and variant level and provide some initial insights into the preliminary analyses that can be enabled on such a rich source of UK population genomic data.