Members of the Central and South Genomics team, attending a long read event in Oxford

Central and South hold Long Read event

On July 20 2022, colleagues from across the Central and South Genomic Medicine Service Alliance region met to share expertise in the exciting field of Long Read Sequencing Technologies.

Attendees travelled from across the Central and South region, which covers the West Midlands, Thames Valley and Wessex, for the networking event which provided an introduction to the topic, as well as the sharing of experience and expertise, which aimed to support the development and implementation of this rapidly advancing technology into healthcare.  The event welcomed those of all levels from early career researchers and PhD students to clinical directors from across our geography.

Long-read, or third-generation, sequencing involves reading sequences of between 10,000 and 100,000 base pairs in one go (although much longer reads have also been reported), without the need to cut up and amplify DNA samples. One of the main benefits is that because the genome sequence is assembled from much larger pieces, opportunities for error and uncertainty are greatly reduced. Long-read sequencing has promising applications not just in genomics but also in transcriptomics, as it can potentially read complete RNAs.

Sarah Ennis, CAS GMSA Research Director and Professor of Genomics at the University of Southampton, said: “We were delighted to see the interest, expertise and collegiality of colleagues from across our geographic region all coming together for this face-to-face meeting.

“Thanks to the enthusiasm of everyone who attended, presented and discussed their experiences at the coal-face of applying long read technologies, we are delighted to be planning our next event and building collaborative momentum.”

The event has received positive feedback from attendees, who hope to meet again in the autumn. During the event a set of aims and objectives were set to support the structure and purpose of the group going forward. The aims include: sharing best practice, sharing cases and regions of the genome to explore what can be technically done, coalesce and scientifically push long read technology to the forefront of Genomic Medicine in the NHS.

If you would like to learn more about the event, or register your interest for future events please email Dani Lynch at Daniella.Lynch3@uhb.nhs.uk