Impact of panel design and cut-off on tumor mutational burden (TMB) assessment in metastatic solid tumor samples.
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Impact of panel design and cut-off on tumor mutational burden (TMB) assessment in metastatic solid tumor samples.
Mankor JM, Paats MS, Groenendijk FH, Roepman P, Dinjens WNM, Dubbink HJ, Sleijfer S, CPCT Consortium, Cuppen E, Lolkema MPJK …
A mutational signature in human colorectal cancer induced by genotoxic pks+ E. coli
Pleguezuelos-Manzano C, Puschhof J, Rosendahl Huber A, van Hoeck A, Wood H, Nomburg JL, Gurjao C, Manders F, Dalmasso G, …
GRIDSS, PURPLE, LINX: Unscrambling the tumor genome via integrated analysis of structural variation and copy number
Cameron DL, Baber J, Shale C, Papenfuss AT, Espejo Valle-Inclan J, Besselink N, Cuppen E, Priestley P BJC British Journal …
A practical framework and online tool for mutational signature analyses show intertissue variation and driver dependencies
Andrea Degasperi, Tauanne Dias Amarante, Jan Czarnecki, Scott Shooter, Xueqing Zou, Dominik Glodzik, Sandro Morganella, Arjun S. Nanda, Cherif Badja, …
A deep learning system accurately classify primary and metastatic cancers using passenger mutation patterns
Jiao W, Atwal G, Polak P, Karlic R, Cuppen E; PCAWG Tumor Subtypes and Clinical Translation Working Group, Danyi A, …
svMIL: predicting the pathogenic effect of TAD boundary-disrupting somatic structural variants through multiple instance learning
Marleen M. Nieboer, Jeroen de Ridder Bioinformatics December 1, 2020 PMID: 33381833
Pervasive Chromosomal Instability and Karyotype Order In Tumour Evolution
Thomas BK Watkins, Emilia L Lim, Marina Petkovic, Sergi Elizalde, Nicolai J Birkbak, Gareth A Wilson, David A Moore, Eva …
Pan-cancer landscape of homologous recombination deficiency.
Nguyen L, van Hoeck A, Cuppen E Nature Communications November 1, 2020 PMID: 33149131
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study
Marco Punta, Victoria A. Jennings, Alan A. Melcher, Stefano Lise Frontiers in Immunology October 8, 2020 PMID: 33133066
Driver mutations occur frequently in metastases of well‐differentiated small intestine neuroendocrine tumours
Samsom K G, Levy S, van Veenendaal L M, Roepman P, Kodach L L, Steeghs N, Valk G D, Dercksen …
Pervasive Chromosomal Instability and Karyotype Order In Tumour Evolution
Thomas BK Watkins, Emilia L Lim, Marina Petkovic, Sergi Elizalde, Nicolai J Birkbak, Gareth A Wilson, David A Moore, Eva …
A compendium of mutational cancer driver genes
Francisco Martínez-Jiménez, Ferran Muiños, Inés Sentís, Jordi Deu-Pons, Iker Reyes-Salazar, Claudia Arnedo-Pac, Loris Mularoni, Oriol Pich, Jose Bonet,Hanna Kranas, Abel …
Door WGS hebben we in de moleculaire diagnostiek op onze afdeling een stap gemaakt van de analyse van minder dan 100 genen naar circa 20.000 genen per patiënt. Dat levert ontzettend veel waardevolle informatie, niet alleen voor de patiënt van vandaag, maar ook voor de patiënt van de toekomst.
