General

Session # P109

Impact of structural biology assessment on variant interpretation and patient outcomes over ten years in a clinical diagnostic laboratory

Presenting Author: Rachel Jones, PhD

Take home points: 

  1. Structure biology can be a powerful tool for variant analysis
  2. Specific genes are more amenable to structure biology analysis, and this information can be used to improve variant classification in these genes.

  • Authors: Rachel Jones; Caitlin Reid; Holly LaDuca; Amanda Jacquart; Matthew Varga
  • Conference: ACMG 2026
  • Date: Thursday, Mar 12, 2026 10:30am - 11:30am

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