A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
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A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
Wei Jiao, Gurnit Atwal, Paz Polak, Rosa Karlic, Edwin Cuppen, PCAWG Tumor Subtypes and Clinical Translation Working Group, Fatima Al-Shahrour, …
Pervasive chromosomal instability and karyotype order in tumour evolution
Thomas B. K. Watkins, Emilia L. Lim, Marina Petkovic, Sergi Elizalde, Nicolai J. Birkbak, Gareth A. Wilson, David A. Moore, …
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, 2020, DOI
Impact of DNA damage repair defects on response to radium-223 and overall survival in metastatic castration-resistant prostate cancer
Maarten J. Van Der Doelen, Pedro Isaacsson Velho, Peter H.J. Slootbeek, Samhita Pamidimarri Naga, Maren Bormann, Sjoerd Van Helvert, Leonie …
svMIL: predicting the pathogenic effect of TAD boundary-disrupting somatic structural variants through multiple instance learning
Marleen M. Nieboer & Jeroen De Ridder Bioinformatics, 2020, DOI
Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE)
Kris G. Samsom, Linda J. W. Bosch, Luuk J. Schipper, Paul Roepman, Ewart De Bruijn, Louisa R. Hoes, Immy Riethorst, …
Impact of panel design and cut-off on tumour mutational burden assessment in metastatic solid tumour samples
CPCT Consortium, Joanne M. Mankor, Marthe S. Paats, Floris H. Groenendijk, Paul Roepman, Winand N. M. Dinjens, Hendrikus J. Dubbink, …
DNA mismatch repair promotes APOBEC3-mediated diffuse hypermutation in human cancers
David Mas-Ponte & Fran Supek Nature Genetics, 2020, DOI
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, …
Pan-cancer landscape of homologous recombination deficiency
Luan Nguyen, John W. M. Martens, Arne Van Hoeck & Edwin Cuppen Nature Communications, 2020, DOI
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, …
Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli
Cayetano Pleguezuelos-Manzano, Jens Puschhof, Axel Rosendahl Huber, Arne Van Hoeck, Henry M. Wood, Jason Nomburg, Carino Gurjao, Freek Manders, Guillaume …
Het aantal WGS- samples dat Hartwig Medical Foundation heeft, is uniek in het onderzoeksveld en groeit snel. Toen we begonnen waren het er 3.500 en dat zijn er nu al meer dan 5.000.