Exercising the potential and boundaries of long-read sequencing technology to benefit patients
The Central & South Genomic Medicine Service Alliance has supported the establishment of a regional network of scientists and researchers with expertise and experience in the application of long range sequencing technologies for genomic medicine research. The overall aims of our group of Long Read CASe Detectives is to agree best practice, provide access to and explore interesting cases that demonstrate the technical possibilities of long read sequencing, share data, and coalesce around our collective experience of emerging technologies.
While the technologies currently being applied through the Genomic Medicine Service are largely restricted to short read sequencing approaches, there is clear recognition of the added value and potential benefit to patients of long read sequencing approaches (for both DNA and RNA).
The geographic region of the Central & South GMSA is lucky to boast a substantial body of expertise in this rapidly evolving technology. The LR CASe Detectives represent the collective of these individuals who are keen to foster collaboration and work in synergy to drive regional ambition around this promising technology. Following the success of our first networking event in June 2022, regular face-to-face meetings are now being scheduled. In addition to the scientists, bioinformaticians and academic clinical researchers, meetings also benefit from input from industrial partners such as Oxford Nanopore Technology, Pacific Biosystems, Illumina and Twist Bioscience. The events are informal, with lots of opportunity for discussion alongside some brief presentations that capture: which technologies are currently being tested, compared and applied; the clinical and biological samples currently being assessed; and the bioinformatic and analytical solutions being used and developed.