SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing
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Author(s):
Hillary Elrick, Carolin M. Sauer, Jose Espejo Valle-Inclan, Katherine Trevers, Melanie Tanguy, Sonia Zumalave, Solange De Noon, Francesc Muyas, Rita Cascão, Angela Afonso, Alistair G. Rust, Fernanda Amary, Roberto Tirabosco, Adam Giess, Timothy Freeman, Alona Sosinsky, Katherine Piculell, David T. Miller, Claudia C. Faria, Greg Elgar, Adrienne M. Flanagan, Isidro Cortes-Ciriano
Published in:
Nature Methods, Issue 22, 2025, ISSN 1548-7091
Publisher:
Springer Science and Business Media LLC
DOI:
10.1038/S41592-025-02708-0
Stratified Medicine Paediatrics: Cell free DNA and serial tumour sequencing identifies subtype specific cancer evolution and epigenetic states
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Author(s):
Sally L. George, Claire Lynn, Reda Stankunaite, Debbie Hughes, Carolin M. Sauer, Jane Chalker, Saira Waqar Ahmed, Minou Oostveen, Paula Z. Proszek, Lina Yuan, Ridwan Shaikh, Sabri Jamal, Ama Brew, Jennifer Tall, Tony Rogers, Steven C. Clifford, Josef Vormoor, Janet M. Shipley, Deborah A. Tweddle, Chris Jones, Courtney Willis, G.A. Amos Burke, Aditi Vedi, Lisa Howell, Robert Johnston, Helen Rees, Madeleine Adams, Angela Jesudason, Milind Ronghe, Martin Elliott, Emma Ross, Guy Makin, Quentin Campbell-Hewson, Richard G. Grundy, Jennifer Turnbull, Shaun Wilson, Victoria Lee, Juliet C. Gray, Sara Stoneham, Susanne A. Gatz, Lynley V. Marshall, Paola Angelini, John Anderson, George D. Cresswell, Trevor A. Graham, Bissan Al-Lazikani, Isidro Cortes-Ciriano, Pamela Kearns, J. Ciaran Hutchinson, Darren Hargrave, Thomas S. Jacques, Michael Hubank, Andrea Sottoriva, Louis Chesler
Published in:
Cancer Discovery, 2024, ISSN 2159-8274
Publisher:
American Association for Cancer Research (AACR)
DOI:
10.1158/2159-8290.CD-24-0916
SAVANA: reliable analysis of somatic structural variants and copy number aberrations in clinical samples using long-read sequencing
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Author(s):
Hillary Elrick; Carolin M Sauer; Jose Espejo Valle-Inclan; Katherine Trevers; Melanie Tanguy; Sonia Zumalave; Solange De Noon; Francesc Muyas; Rita Cascao; Angela Afonso; Fernanda Amary; Roberto Tirabosco; Adam Giess; Timothy Freeman; Alona Sosinsky; Katherine Piculell; David T Miller; Claudia C Faria; Greg Elgar; Adrienne M Flanagan; Isidro Cortes-Ciriano
Published in:
Crossref, 2024, ISSN 2692-8205
Publisher:
bioRxiv
DOI:
10.21203/RS.3.RS-4870639/V1
Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution
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Author(s):
Jose Espejo Valle-Inclan, Solange De Noon, Katherine Trevers, Hillary Elrick, Ianthe A.E.M. van Belzen, Sonia Zumalave, Carolin M. Sauer, Mélanie Tanguy, Thomas Butters, Francesc Muyas, Alistair G. Rust, Fernanda Amary, Roberto Tirabosco, Adam Giess, Alona Sosinsky, Greg Elgar, Adrienne M. Flanagan, Isidro Cortés-Ciriano
Published in:
Cell, 2025, ISSN 0092-8674
Publisher:
Elsevier BV
DOI:
10.1016/j.cell.2024.12.005