Author

S. Humphray

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Open access Oct 2026

Rapid Whole Genome Sequencing Enhances Pediatric Cancer Diagnosis

Whole-genome sequencing (WGS) has been shown to improve diagnosis beyond standard-of-care genetic tests and guide precision treatment for childhood cancer. While WGS is now offered for children with suspected cancer in England, clinical workflows typically return results after several weeks whereas clinical decisions a...

A. Vedi, J. Trotman, João M. L. Dias et al. · Nature Communications · 0 citations

Open access Sep 2026

Illumina TruPath genome towards comprehensive high-resolution analysis of genomic diversity and structural complexity

TruPath Genome achieves high-resolution detection of SNVs and indels alongside long-range phasing for CNVs and structural variant (SV) refinement and facilitates telomere-to-telomere assemblies and pangenome development, advancing the understanding of genome biology at an unprecedented scale.

Luca Bertoli, Matteo Orlandi, Aurelia Iuliana Timis et al. · npj Genomic Medicine · 0 citations