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.

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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

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article

Ultrafast WGS protocol v1

J. M. Dias, Aditi Vedi, Sean Humphray, Martina Mijušković
Embedded Systems and FPGA Design
article

Ultrafast WGS protocol v1

J. M. Dias, Aditi Vedi, Sean Humphray, Martina Mijušković
article en

Abstract

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.

National Institute for Health and Care Research, Isaac Newton Trust
Openalex Percentile: Top 67%
Embedded Systems and FPGA Design
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