Oxford Nanopore Announces Collaboration with Genomics England to Support 100,000 Genomes Project Rare Disease Initiative
11-6-23 (by: Scott Gleason) Oxford Nanopore Technologies has announced a collaboration with Genomics England, using nanopore sequencing technology to analyze the genetic makeup of participants from the landmark 100,000 Genomes Project. The new initiative aims to sequence as many as 7,500 samples from participants with various genetic disorders, with a primary focus on rare conditions that have not yet been diagnosed using conventional short-read sequencing methods.
The study seeks to provide new diagnoses for participants who have not yet been diagnosed. Additionally, for participants who have received partial diagnoses, the goal is to complete the genetic characterization and heritability within families. The project also aims to identify potentially missed variants and demonstrate improvements over traditional short-read sequencing technologies.
The project is part of a broader multi-omic study led by Genomics England. This larger effort encompasses genomics, transcriptomics, epigenomics, proteomics, and metabolomics to enhance our understanding of challenging, rare genetic cases. Metabolon recently announced that it would provide support for metabolic analysis of samples from the study.
In addition to whole genome sequencing, a subset of samples will undergo full-length RNA sequencing using Nanopore’s unique long-read sequencing technology. The participant cohort will include singleton samples as well as duo/trio families.
The sequencing services for this project will be provided by Eurofins Genomics. They will use Oxford Nanopore’s high-throughput sequencing device, the PromethION 48. Upon the completion of the project, the data will be stored in the National Genomic Research Library, creating the world’s largest global dataset with genetic and epigenetic profiles focused on rare diseases.
Professor Matt Brown, CSO of Genomics England, shared his excitement about this groundbreaking venture. He highlighted the remarkable progress in genomic research and the potential for long-read and epigenetic sequencing to enhance the understanding of rare genetic conditions, ultimately contributing to the world’s largest dataset for comprehensive genomic profiling to support diagnosis in patients and families affected by rare genetic conditions.