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Ambry Genetics Launches GenomeNext and GenomeReveal for Rare Disease Diagnosis

Shots:

  • Ambry Genetics has launched GenomeNext and GenomeReveal, a whole genome sequencing solution designed to improve diagnosis of rare diseases
  • GenomeNext uses a pangenome reference to improve variant detection across diverse ancestral backgrounds, while GenomeReveal’s integrated RNA analysis provides additional evidence to help interpret certain DNA findings
  • GenomeNext combines comprehensive genomic analysis, RNA evidence, and ongoing reanalysis to improve diagnostic opportunities for patients and provide updated insights

Ref: Businesswire |   Image: Ambry Genetics |  Press Release

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