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oai:repisalud.isciii.es:20.500.12105/125932025-04-03T18:44:53Zcom_20.500.12105_15322com_20.500.12105_2051com_20.500.12105_2052col_20.500.12105_16958col_20.500.12105_16962col_20.500.12105_19616
Repisalud author Koelsche, Christian author Schrimpf, Daniel author Stichel, Damian author Sill, Martin author Sahm, Felix author Reuss, David E author Blattner, Mirjam author Worst, Barbara author Heilig, Christoph E author Beck, Katja author Horak, Peter author Kreutzfeldt, Simon author Paff, Elke author Stark, Sebastian author Johann, Pascal author Selt, Florian author Ecker, Jonas author Sturm, Dominik author Pajtler, Kristian W author Reinhardt, Annekathrin author Wefers, Annika K author Sievers, Philipp author Ebrahimi, Azadeh author Suwala, Abigail author Fernández-Klett, Francisco author Casalini, Belén author Korshunov, Andrey author Hovestadt, Volker author Kommoss, Felix K F author Kriegsmann, Mark author Schick, Matthias author Bewerunge-Hudler, Melanie author Milde, Till author Witt, Olaf author Kulozik, Andreas E author Kool, Marcel author Romero-Pérez, Laura author Grünewald, Thomas G P author Kirchner, Thomas author Wick, Wolfgang author Platten, Michael author Unterberg, Andreas author Uhl, Matthias author Abdollahi, Amir author Debus, Jürgen author Lehner, Burkhard author Thomas, Christian author Hasselblatt, Martin author Paulus, Werner author Hartmann, Christian author Staszewski, Ori author Prinz, Marco author Hench, Jürgen author Frank, Stephan author Versleijen-Jonkers, Yvonne M H author Weidema, Marije E author Mentzel, Thomas author Griewank, Klaus author de Álava, Enrique author Díaz Martín, Juan author Idoate Gastearena, Miguel A author Chang, Kenneth Tou-En author Low, Sharon Yin Yee author Cuevas-Bourdier, Adrian author Mittelbronn, Michel author Mynarek, Martin author Rutkowski, Stefan author Schüller, Ulrich author Mautner, Viktor F author Schittenhelm, Jens author Serrano, Jonathan author Snuderl, Matija author Büttner, Reinhard author Klingebiel, Thomas author Buslei, Rolf author Gessler, Manfred author Wesseling, Pieter author Dinjens, Winand N M author Brandner, Sebastian author Jaunmuktane, Zane author Lyskjær, Iben author Schirmacher, Peter author Stenzinger, Albrecht author Brors, Benedikt author Glimm, Hanno author Heining, Christoph author Tirado, Oscar M author Sáinz-Jaspeado, Miguel author Mora, Jaume author Alonso, Javier author García Del Muro, Xavier author Moran, Sebastian author Esteller, Manel author Benhamida, Jamal K author Ladanyi, Marc author Wardelmann, Eva author Antonescu, Cristina author Flanagan, Adrienne author Dirksen, Uta author Hohenberger, Peter author Baumhoer, Daniel author Hartmann, Wolfgang author Vokuhl, Christian author Flucke, Uta author Petersen, Iver author Mechtersheimer, Gunhild author Capper, David author Jones, David T W author Fröhling, Stefan author Pfister, Stefan M author von Deimling, Andreas funder German Cancer Aid funder National Institute for Health Research (Reino Unido) funder NIHR - UCL Biomedical Research Centre (Reino Unido) funder Luxembourg National Research Fund 2021-04-09T20:06:06Z 2021-04-09T20:06:06Z 2021 Nat Commun . 2021 Jan 21;12(1):498. 10.1038/s41467-020-20603-4 2041-1723 Nature communications 33479225 http://hdl.handle.net/20.500.12105/12593 Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents and children. They represent a morphologically heterogeneous class of tumours and some entities lack defining histopathological features. Therefore, the diagnosis of sarcomas is burdened with a high inter-observer variability and misclassification rate. Here, we demonstrate classification of soft tissue and bone tumours using a machine learning classifier algorithm based on array-generated DNA methylation data. This sarcoma classifier is trained using a dataset of 1077 methylation profiles from comprehensively pre-characterized cases comprising 62 tumour methylation classes constituting a broad range of soft tissue and bone sarcoma subtypes across the entire age spectrum. The performance is validated in a cohort of 428 sarcomatous tumours, of which 322 cases were classified by the sarcoma classifier. Our results demonstrate the potential of the DNA methylation-based sarcoma classification for research and future diagnostic applications. eng Sarcoma classification by DNA methylation profiling. research article 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 URL https://repisalud.isciii.es/bitstreams/e2f1dbd7-cfdd-45fd-9730-b6a1b9dd1868/download File MD5 6618316eae2be6c15bcfa68032ab60cc 2499801 application/pdf SarcomaClassificationByDNA_2021.pdf URL https://repisalud.isciii.es/bitstreams/bb70be50-ff8f-43fe-ac64-fa6a26d15b02/download File MD5 9023d7031c57859e75a4b1472b66d64f 74029 text/plain SarcomaClassificationByDNA_2021.pdf.txt