This is a recording of a session from the AMP 2020 Annual Meeting & Expo. Purchase the entire AMP 2020 Annual Meeting & Expo recordings for a significant discount!
HGVS nomenclature is an essential vocabulary that allows for consistent description of sequence variants. However, HGVS nomenclature usage is highly variable across laboratories in proficiency testing surveys, and different software annotation tools frequently generate discordant HGVS nomenclature outputs. This session engages the diagnostic testing community in order to improve the consistency of HGVS nomenclature usage. Ongoing work by the CAP Genomic Medicine Committee on this topic was presented.
Moving Towards Clinical-grade HGVS Nomenclature
Birgit Funke, PhD, FACMG, Sema4, Newton, MA, USA
Reece Hart, PhD, Reece Hart Consulting, San Francisco, CA, USA
Somak Roy, MD, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
Ryan Schmidt, MD, PhD, Children's Hospital Los Angeles, Los Angeles, CA, USA
Objectives:
- Identify sources of discrepancy in the usage of HGVS nomenclature.
- Compare potential solutions for improving the usage of HGVS nomenclature by laboratories.ut the use of liquid biopsies for cancer screening.
Recording Date: November 17, 2020
Continuing Education Credit Information
CME/CMLE credit: 1.00 hr
Last day to purchase course and CE claim credit: February 16, 2024
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