Exome & General Genetics

Automated HPO terms matching reduces analysis time but does not completely eliminate the requirement for manual review of exome sequencing results

  • Authors: Mari Rossi; Kelly Radtke; Samin A. Sajan; Deepali N. Shinde; Jennifer Huang; Kelly Hagman; Adam Chamberlin; Hamed Masnadi-Shirazi
  • Conference: ASHG 2020
  • Date: Tuesday, Oct 27, 2020 12:00am - 12:00pm

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