Ultrafast WGS protocol v1
Ultra-Fast Whole Genome Sequencing (UF-WGS) offers rapid, comprehensive molecular profiling in paediatric haematology-oncology, enabling critical improvements in diagnosis and patient management. In a prospective study of 54 children with suspected or confirmed cancer, UF-WGS reduced turnaround time from 37 to 3 days versus standard NHS practice and captured 95% of all clinically actionable variants found by conventional methods. UF-WGS also identified 19 additional actionable variants, leading to demonstrable improvements in care for 51% of prospective patients, including avoidance of over-medicalisation and support for timely precision therapy. UF-WGS was feasible across diverse tumour types and sample sources, with additional technical advantages in variant detection and workflow simplicity. These results support UF-WGS as a transformative single-test approach in paediatric oncology, facilitating safer, more rapid allocation of targeted treatment and precise risk stratification.
Authors
- J. M. Dias (ORCID: https://orcid.org/0000-0003-0167-1466)
- Aditi Vedi (ORCID: https://orcid.org/0000-0001-6761-6510)
- Sean Humphray
- Martina Mijušković
Publication Details
- Published
- 2025-09-20
- DOI
- https://doi.org/10.17504/protocols.io.5jyl881b8l2w/v1
- Primary Topic
- Embedded Systems and FPGA Design
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute for Health and Care Research
- Isaac Newton Trust