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Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing

Use Case from the Journal of Molecular Diagnostics

Multiplexed-Reference-Materials-Controls-Next-Generation-Sequencing-img.pngNext-generation sequencing (NGS) is increasingly used to discover causative variants for a growing number of inherited disorders such as hypertrophic cardiomyopathy (HCM). A group at the Laboratory of Molecular Medicine, Harvard Partners Healthcare at the Massachusetts General Hospital recently published an article on their collaboration with SeraCare to design a multiplexed reference material for their NGS-based hypertrophic cardiomyopathy assay.

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  • How to expedite development and validation of targeted NGS-based assays
  • Biosynthetic approach to creating patient-like reference material
  • How to leverage expert-designed, disease-specific QC material

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