Machine learning-based tissue of origin classification for cancer of unknown primary diagnostics using genome-wide mutation features
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DOI: 10.1038/s41467-022-31666-w
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- Henry Lee-Six & Sigurgeir Olafsson & Peter Ellis & Robert J. Osborne & Mathijs A. Sanders & Luiza Moore & Nikitas Georgakopoulos & Franco Torrente & Ayesha Noorani & Martin Goddard & Philip Robinson &, 2019. "The landscape of somatic mutation in normal colorectal epithelial cells," Nature, Nature, vol. 574(7779), pages 532-537, October.
- Paz Polak & Rosa Karlić & Amnon Koren & Robert Thurman & Richard Sandstrom & Michael S. Lawrence & Alex Reynolds & Eric Rynes & Kristian Vlahoviček & John A. Stamatoyannopoulos & Shamil R. Sunyaev, 2015. "Cell-of-origin chromatin organization shapes the mutational landscape of cancer," Nature, Nature, vol. 518(7539), pages 360-364, February.
- Yilong Li & Nicola D. Roberts & Jeremiah A. Wala & Ofer Shapira & Steven E. Schumacher & Kiran Kumar & Ekta Khurana & Sebastian Waszak & Jan O. Korbel & James E. Haber & Marcin Imielinski & Joachim We, 2020. "Patterns of somatic structural variation in human cancer genomes," Nature, Nature, vol. 578(7793), pages 112-121, February.
- Philip J. Stephens & Patrick S. Tarpey & Helen Davies & Peter Van Loo & Chris Greenman & David C. Wedge & Serena Nik-Zainal & Sancha Martin & Ignacio Varela & Graham R. Bignell & Lucy R. Yates & Elli , 2012. "The landscape of cancer genes and mutational processes in breast cancer," Nature, Nature, vol. 486(7403), pages 400-404, June.
- Peter Priestley & Jonathan Baber & Martijn P. Lolkema & Neeltje Steeghs & Ewart Bruijn & Charles Shale & Korneel Duyvesteyn & Susan Haidari & Arne Hoeck & Wendy Onstenk & Paul Roepman & Mircea Voda & , 2019. "Pan-cancer whole-genome analyses of metastatic solid tumours," Nature, Nature, vol. 575(7781), pages 210-216, November.
- S. Kasar & J. Kim & R. Improgo & G. Tiao & P. Polak & N. Haradhvala & M. S. Lawrence & A. Kiezun & S. M. Fernandes & S. Bahl & C. Sougnez & S. Gabriel & E. S. Lander & H. T. Kim & G. Getz & J. R. Brow, 2015. "Whole-genome sequencing reveals activation-induced cytidine deaminase signatures during indolent chronic lymphocytic leukaemia evolution," Nature Communications, Nature, vol. 6(1), pages 1-12, December.
- Benjamin Schuster-Böckler & Ben Lehner, 2012. "Chromatin organization is a major influence on regional mutation rates in human cancer cells," Nature, Nature, vol. 488(7412), pages 504-507, August.
- Ming Y. Lu & Tiffany Y. Chen & Drew F. K. Williamson & Melissa Zhao & Maha Shady & Jana Lipkova & Faisal Mahmood, 2021. "AI-based pathology predicts origins for cancers of unknown primary," Nature, Nature, vol. 594(7861), pages 106-110, June.
- Harald Vöhringer & Arne Van Hoeck & Edwin Cuppen & Moritz Gerstung, 2021. "Learning mutational signatures and their multidimensional genomic properties with TensorSignatures," Nature Communications, Nature, vol. 12(1), pages 1-16, December.
- Isidro Cortes-Ciriano & Sejoon Lee & Woong-Yang Park & Tae-Min Kim & Peter J. Park, 2017. "A molecular portrait of microsatellite instability across multiple cancers," Nature Communications, Nature, vol. 8(1), pages 1-12, August.
- Cayetano Pleguezuelos-Manzano & Jens Puschhof & Axel Rosendahl Huber & Arne van Hoeck & Henry M. Wood & Jason Nomburg & Carino Gurjao & Freek Manders & Guillaume Dalmasso & Paul B. Stege & Fernanda L., 2020. "Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli," Nature, Nature, vol. 580(7802), pages 269-273, April.
- Moritz Gerstung & Clemency Jolly & Ignaty Leshchiner & Stefan C. Dentro & Santiago Gonzalez & Daniel Rosebrock & Thomas J. Mitchell & Yulia Rubanova & Pavana Anur & Kaixian Yu & Maxime Tarabichi & Ami, 2020. "The evolutionary history of 2,658 cancers," Nature, Nature, vol. 578(7793), pages 122-128, February.
- Ludmil B. Alexandrov & Jaegil Kim & Nicholas J. Haradhvala & Mi Ni Huang & Alvin Wei Tian Ng & Yang Wu & Arnoud Boot & Kyle R. Covington & Dmitry A. Gordenin & Erik N. Bergstrom & S. M. Ashiqul Islam , 2020. "The repertoire of mutational signatures in human cancer," Nature, Nature, vol. 578(7793), pages 94-101, February.
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- Mingyun Bae & Gyuhee Kim & Tae-Rim Lee & Jin Mo Ahn & Hyunwook Park & Sook Ryun Park & Ki Byung Song & Eunsung Jun & Dongryul Oh & Jeong-Won Lee & Young Sik Park & Ki-Won Song & Jeong-Sik Byeon & Bo H, 2023. "Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
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