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

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