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Recent Webinars

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

Keith Nykamp, PhD, Invitae
November 08, 2017
Series: Leading with Science
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Join us for a live webinar on Invitae’s innovative approach to genetic variant classification, recently published in the October issue of Genetics in Medicine.

The program, intended for genetic counselors, geneticists, and other healthcare providers interested in variant classification, will help you:

  • Understand how Invitae applies the ACMG–AMP variant classification framework and further refines its application for consistency
  • Categorize and prioritize evidence for comprehensive interpretation of sequence variants
  • Identify useful data sources for confident variant classification
  • Systematically and rigorously apply semi-quantitative evidence criteria when classifying variants from benign to pathogenic

Dr. Keith Nykamp has been studying the influence of genetic variation on phenotype in academic and diagnostic settings for more than 15 years. He’s been with Invitae since 2013 and leads the effort to establish and maintain a reliable evidence-based system for variant classification. Before joining Invitae, Dr. Nykamp worked as a molecular geneticist and director of next-generation sequencing at Prevention Genetics.