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.

LR CASe Detectives inaugural meeting June 2022: 

Attendees at the first long read event, held in Oxford in July 2022
Standing rows (left to right): David Buck (University of Oxford), Jim Hughes (University of Oxford), James Docker (University of Oxford), Theodosios Kyriakou (University of Oxford), Alistair Pagnamenta (University of Oxford), James Ashton (University Hospitals Southampton), Tony Williams (CAS GMSA), Andrew Beggs (University of Birmingham), Edd James (University of Southampton), Jon Strefford (University of Southampton), Roland Arnold (University of Birmingham), Anne Goriely (University of Oxford), Tony Thornburn (CAS GMSA), Nick Cross (CAS GLH/ University of Southampton), Hannah Brooks (University of Oxford), Adam Cribbs (University of Oxford), David Smith (University of Oxford), and Jade Forster (University of Southampton) Kneeling row (left to right): Jia-Yuan Zhang (University of Oxford), Gavin Band (University of Oxford), Sarah Ennis (CAS GMSA/ University of Southampton), Jing Yu (University of Oxford), Ed Blair (CAS GLH/ Oxford University Hospitals), Sarah Frampton (University of Southampton), Marine Armand (University of Southampton), Konstantinos Boukas (University of Southampton), and Deborah Mackay (University of Southampton)

LR CASe Detectives second meeting November 2022: 

The second meeting of the Long Read CASe Detectives group in November 2022
Row 1: Anne Goriely, Deborah Mackay, Olaf Ansorge, Alistair Pagnamenta, Jakub Scaber, Sarah Ennis, Jon Strefford, Jenny Taylor. Row 2: Jessica Woodley, Lorraine Hartles-Spencer, Hannah Titheradge, Gavin Ryan, Jane Gibson, Julian Knight. Row 3: Edd James, Sarah Frampton, Jade Forster, John Taylor, Penny Clouston. Row 4: Jose Villanueva, Tim Walker (ONT), Orie Shaw (ONT), Paolo Piazzo, Tushar Shah (Twist Bioscience). Row 5: Adam Cribbs, Sian Sperring, Gerald Goh (ONT), Fer Tornos (Twist Bioscience). Row 6: Magdalena Nowak, Alice Fair, Tony Thornburn, Carolina Jaramillo-Oquendo, Gavin Band, Jia-Yuan Zhang. Row 7: Theodosios Kyriakou, James Docker.

LR CASe Detectives third meeting March 2023: 

Attendees at the third Long Read Case Detectives meeting, held in Oxford in March 2023
Left to Right - Alistair Pagnamenta, Penny Coulston, Sarah Ennis, Gavin Band, James Docker , James Ashton, Matt Salmon, Olaf Ansorge, Tony Thornburn, Nick Cross, Jakub Scaber, Tony Williams, John Taylor, Dale Maxwell, Adam Cribbs, Steve Bush, James Davies, Julian Knight, Katherine Wood, Steve Twigg, Rafail Nikola, Yang Pei, Lorraine Hartles-Spencer, Andrew Douglas, Eleanor Seaby, Chris Mattocks, Carolina Jaramillo-Oquendo, Helen Lockstone
More information about our next Long Read event is included in this flyer: Spring 2023 LR CASe Detectives flyer


We are already working collaboratively on a set of challenges that we believe best demonstrate the unique attributes of long read sequencing data. We are sequencing cryptic DNA samples and specifically targeting tricky-to-sequence genomic regions.

If you feel you might have samples or targets that could be suitable for us to work on, a case submission form has been produced for colleagues who would like to work with us, please complete this form: LR CASe Detectives submission form. Please send completed forms to GMSAAdmin@uhb.nhs.uk

Our goal is to enable translational research and implementation in this area, promote regional collaboration, develop networking and building capacity, and understand how the CAS-GMSA can support and facilitate developments in these technologies.

Please email GMSAAdmin@uhb.nhs.uk if you would like to register your interest in Long Read focused activities supported by the CAS GMSA.