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Internal Standardization of the Interpretation and Reporting of Sequence Variants in Hematologic Neoplasms.

Nikita MehtaRong HeDavid S Viswanatha
Published in: Molecular diagnosis & therapy (2021)
Well-established oncogenic alterations were accurately classified as pathogenic. Although there is no defined benchmark for the remaining variants, drawing from two existing guidelines enabled the creation of a modified curation process for variant interpretation that emphasizes systematic review of relevant evidence.
Keyphrases
  • systematic review
  • copy number
  • meta analyses
  • transcription factor
  • clinical practice
  • adverse drug
  • emergency department
  • randomized controlled trial