Article
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer.
Nature medicine - 1 Nov 2020
Wong Marie, Mayoh Chelsea, Lau Loretta M S, Khuong-Quang Dong-Anh, Pinese Mark, Kumar Amit, Barahona Paulette, Wilkie Emilie E, Sullivan Patricia, Bowen-James Rachel, Syed Mustafa, Martincorena Iñigo, Abascal Federico, Sherstyuk Alexandra, Bolanos Noemi A, Baber Jonathan, Priestley Peter, Dolman M Emmy M, Fleuren Emmy D G, Gauthier Marie-Emilie, Mould Emily V A, Gayevskiy Velimir, Gifford Andrew J, Grebert-Wade Dylan, Strong Patrick A, Manouvrier Elodie, Warby Meera, Thomas David M, Kirk Judy, Tucker Katherine, O'Brien Tracey, Alvaro Frank, McCowage Geoffry B, Dalla-Pozza Luciano, Gottardo Nicholas G, Tapp Heather, Wood Paul, Khaw Seong-Lin, Hansford Jordan R, Moore Andrew S, Norris Murray D, Trahair Toby N, Lock Richard B, Tyrrell Vanessa, Haber Michelle, Marshall Glenn M, Ziegler David S, Ekert Paul G, Cowley Mark J
Abstract excerpt
The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations (39.9% in WGS and RNAseq, 35.1% in WGS only and 25.0% in RNAseq only). Of...
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