Recommendations for Next-Generation Sequencing Germline Variant Confirmation

 Recommendations for Next-Generation Sequencing Germline Variant Confirmation: 

A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors

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Description:

This webinar is based on a new Report from the Association for Molecular Pathology, which establishes recommendations for standardizing orthogonal confirmation practices for germline variants detected by next-generation sequencing (NGS). The AMP NGS Germline Variant Confirmation Working Group with representation from the National Society of Genetic Counselors was formed to assess current evidence and standardize orthogonal confirmation practices to help limit the reporting of false positives. The eight recommendations established by the Working Group are based on a comprehensive review of published literature, current laboratory practice surveys, feedback from open public comment, and professional experiences.

Learning Objectives:

• Describe existing orthogonal confirmation practices for germline variants detected by next-generation sequencing (NGS).
• Discuss the recommendations established by the AMP NGS Germline Variant Confirmation Working Group.
• Discuss potential benefits of establishing more standardized orthogonal confirmation practices for NGS-identified germline variants. 

Speaker: Kristy Crooks, PhD, FACMG University of Colorado Anschutz Medical Campus	Moderator: Avni Santani, PhD Veritas Genetics

Duration: 1 Hour
Level of Instruction: Basic
Date Recorded: May 30, 2023

Continuing Education Credit Information

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