Nanopore whole-genome sequencing of human sarcomas

We performed single and multi-region nanopore whole-genome sequencing on human sarcoma samples from adult and paediatric patients.

2 Datasets 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000925	We performed single and multi-region nanopore whole-genome sequencing on human osteosarcoma samples from adult and paediatric patients.	PromethION	52
EGAD50000001392	We performed single and multi-region nanopore whole-genome sequencing on human bone and soft-tissue sarcoma samples. We also performed nanopore whole-genome sequencing on matched whole blood samples.	PromethION	125

Publications	Citations
Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution. Espejo Valle-Inclan J, De Noon S, Trevers K, Elrick H, van Belzen IAEM, Zumalave S, Sauer CM, Tanguy M, Butters T, Muyas F, Rust AG, Amary F, Tirabosco R, Giess A, Sosinsky A, Elgar G, Flanagan AM, Cortés-Ciriano I. Cell 188: 2025 352-370.e22	20
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing. Elrick H, Sauer CM, Espejo Valle-Inclan J, Trevers K, Tanguy M, Zumalave S, De Noon S, Muyas F, Cascão R, Afonso A, Rust AG, Amary F, Tirabosco R, Giess A, Freeman T, Sosinsky A, Piculell K, Miller DT, Faria CC, Elgar G, Flanagan AM, Cortes-Ciriano I. Nat Methods 22: 2025 1436-1446	7