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037 | _ | _ | |a DKFZ-2021-00179 |
041 | _ | _ | |a eng |
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100 | 1 | _ | |a Koelsche, Christian |0 0000-0001-8763-8864 |b 0 |e First author |
245 | _ | _ | |a Sarcoma classification by DNA methylation profiling. |
260 | _ | _ | |a [London] |c 2021 |b Nature Publishing Group UK |
336 | 7 | _ | |a article |2 DRIVER |
336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1639486713_12182 |2 PUB:(DE-HGF) |
336 | 7 | _ | |a ARTICLE |2 BibTeX |
336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
500 | _ | _ | |a #EA:B300#LA:B300# |
520 | _ | _ | |a 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. |
536 | _ | _ | |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312) |0 G:(DE-HGF)POF4-312 |c POF4-312 |f POF IV |x 0 |
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773 | _ | _ | |a 10.1038/s41467-020-20603-4 |g Vol. 12, no. 1, p. 498 |0 PERI:(DE-600)2553671-0 |n 1 |p 498 |t Nature Communications |v 12 |y 2021 |x 2041-1723 |
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