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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Takahiko KoyamaKahn RhrissorrakraiLaxmi Parida
Published in: BMC cancer (2019)
Although it would be inappropriate to blindly accept these recurrent variants as pathogenic, they may warrant higher priority than other observed VUS's. These newly identified recurrent variants might affect the molecular profiles of approximately 1 in 6 patients. Further analysis and characterization of these variants in both research and clinical contexts will improve patient treatments and the development of new therapeutics.
Keyphrases
  • copy number
  • newly diagnosed
  • ejection fraction
  • small molecule
  • case report
  • prognostic factors
  • single molecule
  • gene expression
  • genome wide