Implementing long-read sequencing
Research type
Research Study
Full title
Implementing long-read sequencing in a clinical service costs and benefits
IRAS ID
346352
Contact name
Natalie Chandler
Contact email
Sponsor organisation
Great Ormond Street Hospital for Children NHS Foundation Trust
Duration of Study in the UK
2 years, 6 months, 22 days
Research summary
Next-generation sequencing (NGS) is a powerful molecular tool that is routinely used in diagnostic genetics laboratories worldwide. NGS enables sequencing of an individual’s genome in short DNA fragments which are computationally organised against a ‘normal’ reference genome. This technology, referred to as ‘short-read’ NGS is effective at sequencing much of the human genome, however gaps can arise due to the complex and repetitive nature of some genomic regions. Crucially, disease-causing variations hidden in these gaps may result in a missed diagnosis. Alternative sequencing technologies, referred to as ‘long-read’, significantly increase the size of the sequenced fragments, thereby reducing the number of gaps, and potentially increasing the diagnostic yield.
The overarching aim is to demonstrate how long-read NGS can overcome issues encountered by short-read sequencing, with a particular focus on specific genes and genetic disorders that are tested for at GOSH. Furthermore, the possible economic impact of long-read sequencing will be investigated to determine if this approach could result in a higher diagnostic yield at a comparable or cheaper cost to the NHS than the current diagnostic methodologies. Long-read sequencing has the potential to transform the clinical diagnostic landscape of unsolved cases.
REC name
North West - Liverpool Central Research Ethics Committee
REC reference
25/NW/0089
Date of REC Opinion
21 Mar 2025
REC opinion
Favourable Opinion