Nathalie Kingston and Kathy Stirrups from the NIHR BioResource in the UK presented at London Calling 2025 on “Using long-read sequencing for translational health research.” The NIHR BioResource has ~300,000 participants and a recallable resource. Samples can be identified by phenotype and genotype. The BioResource has panels of participants from several diseases and groups. Stirrups spoke about sequencing 8,000 genomes with Genomics England. However, only 20% of sequenced patients results in a diagnosis. They now aim to sequence up to 22,000 genomes using PromethION 48 instruments and processing with HPC. Current projects, Stirrups explained, include genes and cognition, extreme eating disorders, and rare diseases. There are two laboratories with eight PromethION 48 instruments. There are both blood and saliva derived DNAs and fresh and legacy samples. The team is aiming 30X human genomes. The throughput is 384 genomes per week or 1,536 per month! At the University of Cambridge they are using the HPC for EPI2ME analysis. Stirrups described the numerous quality control steps that are in place. The samples have been processed using different extraction methods. Blood samples align well to the human genome; saliva samples often have microbial and food DNA. Thus, saliva samples often have to be over sequenced, noted Stirrups. 33X coverage was enough for identifying most SNPs. Stirrups shared data confirming diagnostic results. Phasing has helped with diagnostic power when parental genomes are not available. Stirrups also shared examples of the power of methylation detection. The session concluded with a summary of the efforts of the BioResource and the impact sequencing hundreds of genomes per week has on the diagnostic potential.
