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Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Ingegerd ÖfverholmKarin WallanderCecilia HaglundVenkatesh ChellappaJohan WejdeAnna GellerbringValtteri WirtaAnnick ReneveyEva CaceresPanagiotis TsagkozisMarkus MayrhoferAntroula PapakonstantinouChristina Linder-StragliottoRobert BränströmOlle LarssonJohan LindbergYingbo LinFelix Haglund de Flon
Published in: Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
We conclude that WGTS provides an important dimension of data which aids in the classification of soft tissue and bone tumors, correcting a significant fraction of clinical diagnoses, and identifies molecular targets relevant for precision medicine. However, genetic findings need to be evaluated in their morphopathological context, just as germline findings need to be evaluated in the context of patient phenotype and family history.
Keyphrases
  • soft tissue
  • genome wide
  • machine learning
  • copy number
  • deep learning
  • case report
  • electronic health record
  • single cell
  • dna repair
  • gene expression
  • dna methylation
  • single molecule
  • data analysis