Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors
Asspciate Professor University of Colarado Aurora, Colorado, United States
Session Description: The AMP Clinical Practice Committee convened the Next-generation sequencing (NGS) Germline Variant Confirmation Working Group to assess current evidence and develop recommendations for orthogonal confirmation practices that, in concert with existing guidelines, are designed to help promote standardization, transparency, and quality improvement among laboratories. The eight recommendations established by the collaborative working group with representation from the National Society of Genetic Counselors are based on a comprehensive review of published literature, current laboratory practice surveys, feedback from multiple public meetings, and professional experiences.
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Title: Recommendations for Next-Generation Sequencing Germline Variant Confirmation Click here to learn more.
Learning Objectives:
Describe existing orthogonal confirmation practices for germline variants detected by 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.
