The DOI matches its Crossref record; 42 of the 42 references it cites were found in a registry or an index.
Sarcoma classification by DNA methylation profiling
Open accessAbstract
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.
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High-performance medicine: the convergence of human and artificial intelligence
Topol, E. J. (2019) · Nature Medicine · doi:10.1038/s41591-018-0300-7 · Cited by 10,450
DNA methylation-based classification of central nervous system tumours
Capper, D., Jones, D. T. W., Sill, M., Hovestadt, V., Schrimpf, D., Sturm, D., Koelsche, C., Sahm, F., Chavez, L., Reuss, D. E., et al. (2018) · Nature · doi:10.1038/nature26000 · Cited by 3,033
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Self-citationA Simple Generalisation of the Area Under the ROC Curve for Multiple Class Classification Problems
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Self-citationPajtler, K. W., Witt, H., Sill, M., Jones, D. T. W., Hovestadt, V., Kratochwil, F., Wani, K., Tatevossian, R., Punchihewa, C., Johann, P., et al. (2015) · Cancer Cell · doi:10.1016/j.ccell.2015.04.002 · Cited by 1,225
Self-citationComprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas
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Zuccato, J. A., Patil, V., Mansouri, S., Liu, J. C., Nassiri, F., Mamatjan, Y., Chakravarthy, A., Karimi, S., Almeida, J. P., Bernat, A.-L., et al. (2022) · Neuro-Oncology · doi:10.1093/neuonc/noab235 · Cited by 53
Cell-Free DNA as a Diagnostic and Prognostic Biomarker in Pediatric Rhabdomyosarcoma
Lak, N. S. M., van Zogchel, L. M. J., Zappeij-Kannegieter, L., Javadi, A., van Paemel, R., Vandeputte, C., De Preter, K., De Wilde, B., Chicard, M., Iddir, Y., et al. (2023) · JCO Precision Oncology · doi:10.1200/po.22.00113 · Cited by 25
Richardson, S. A., Gulati, G., Harker, P. J. B., Redfern, A., Pearce, S. P., Karimpour, M., Hill, S. M., Makeev, V. J., Brennan, B., Lee, A. T., et al. (2025) · doi:10.1101/2025.04.25.25325254
Metadata
- Authors
- Koelsche, C., Schrimpf, D., Stichel, D., Sill, M., Sahm, F., Reuss, D. E., Blattner, M., Worst, B., Heilig, C. E., Beck, K., Horak, P., Kreutzfeldt, S., Paff, E., Stark, S., Johann, P., Selt, F., Ecker, J., Sturm, D., Pajtler, K. W., Reinhardt, A., Wefers, A. K., Sievers, P., Ebrahimi, A., Suwala, A., Fernández-Klett, F., Casalini, B., Korshunov, A., Hovestadt, V., Kommoss, F. K. F., Kriegsmann, M., Schick, M., Bewerunge-Hudler, M., Milde, T., Witt, O., Kulozik, A. E., Kool, M., Romero-Pérez, L., Grünewald, T. G. P., Kirchner, T., Wick, W., Platten, M., Unterberg, A., Uhl, M., Abdollahi, A., Debus, J., Lehner, B., Thomas, C., Hasselblatt, M., Paulus, W., Hartmann, C., Staszewski, O., Prinz, M., Hench, J., Frank, S., Versleijen-Jonkers, Y. M. H., Weidema, M. E., Mentzel, T., Griewank, K., de Álava, E., Martín, J. D., Gastearena, M. A. I., Chang, K. T.-E., Low, S. Y. Y., Cuevas-Bourdier, A., Mittelbronn, M., Mynarek, M., Rutkowski, S., Schüller, U., Mautner, V. F., Schittenhelm, J., Serrano, J., Snuderl, M., Büttner, R., Klingebiel, T., Buslei, R., Gessler, M., Wesseling, P., Dinjens, W. N. M., Brandner, S., Jaunmuktane, Z., Lyskjær, I., Schirmacher, P., Stenzinger, A., Brors, B., Glimm, H., Heining, C., Tirado, O. M., Sáinz-Jaspeado, M., Mora, J., Alonso, J., del Muro, X. G., Moran, S., Esteller, M., Benhamida, J. K., Ladanyi, M., Wardelmann, E., Antonescu, C., Flanagan, A., Dirksen, U., Hohenberger, P., Baumhoer, D., Hartmann, W., Vokuhl, C., Flucke, U., Petersen, I., Mechtersheimer, G., Capper, D., Jones, D. T. W., Fröhling, S., Pfister, S. M., & von Deimling, A.
- Venue
- Nature Communications
- Published
- 2021-01-21
- Volume
- 12
- Issue
- 1
- Pages
- 498-498
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W3122927608
- Cited by
- 532
- References
- 42
- FWCI
- 52.34
- Type
- journal article
- Language
- en
- Open access
- gold
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- Koelsche, C., Schrimpf, D., Stichel, D., Sill, M., Sahm, F., Reuss, D. E., Blattner, M., Worst, B., Heilig, C. E., Beck, K., Horak, P., Kreutzfeldt, S., Paff, E., Stark, S., Johann, P., Selt, F., Ecker, J., Sturm, D., Pajtler, K. W., . . . von Deimling, A. (2021). Sarcoma classification by DNA methylation profiling. Nature Communications. https://doi.org/10.1038/s41467-020-20603-4
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