Rigorous, reproducible variant classification

Sequencing DNA isn’t enough. Genetic sequence must also be translated into medically actionable information.

Invitae has invested heavily in developing Sherloc, an advanced variant classification system that enables objective and reproducible results, a cornerstone of clinically valid and scientifically accurate genetic testing.

We recently published our approach in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG), and hosted a webinar that describes how Invitae:

  • applies and refines the ACMG−AMP variant classification framework and further refines its application for consistency
  • categorizes and prioritizes evidence for comprehensive interpretation of variants
  • identifies useful data sources for confident variant classification
  • systematically and rigorously applies evidence criteria when classifying variants
Watch the webinar

 

We believe that our advanced approach to variant classification results in better treatment and care.