ACMG Recommendations on Sequence Variant Interpretation: Implementation on the Bench NGS Platform
ACMG Recommendations on Sequence Variant Interpretation: Implementation on the Bench NGS Platform
4 PagesACMG recommendations on sequence variant interpretation: implementation on the Bench NGS platform At a glance In this white paper, you will learn: • How Uppsala University Hospital’s Molecular Genetics lab has implemented the ACMG guidelines and standards on sequence variant interpretation. • How the Cartagenia Bench NGS platform facilitates automation of variant classiication pipelines. Introduction In a recent paper, the American C
