KDL Medical Director Sue Richards chairs ACMG work group for revised guidelines on sequence variants

KDL Medical Director Sue Richards chaired a work group for American College of Medical Genetics and Genomics (ACMG) in 2013 comprising representatives from the ACMG, the Association for Molecular Pathology (AMP), and the College of American Pathologists to revisit and revise the standards and guidelines for the interpretation of sequence variants. The guidelines were published this month. Read the report here.