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A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer.

Mahadeo A SukhaiKenneth J CraddockMariam ThomasAaron R HansenTong ZhangLillian SiuPhilippe BedardTracy L StockleySuzanne Kamel-Reid
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
Our somatic variant classification can be of practical value to other clinical molecular laboratories performing cancer genetic profiling by promoting consistent reporting of somatic variants and permitting harmonization of variant data among laboratories and clinical studies.
Keyphrases
  • copy number
  • papillary thyroid
  • squamous cell
  • genome wide
  • machine learning
  • single cell
  • deep learning
  • childhood cancer
  • electronic health record
  • big data
  • young adults
  • artificial intelligence
  • drug induced