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Measure Allele Frequency for Genomic Reference Materials With ddPCR

Research scientist putting test 96 well platte into real-time pcr machine stock photo
Credit: iStock

Highly sensitive and accurate methods are needed to define target allele frequencies (AFs) in next-generation sequencing (NGS) reference material which is critical for the development and characterization of accurate and precise assays for a variety of applications.

Droplet Digital PCR (ddPCR) offers sensitive quantification of AFs, but there is little evidence confirming the concordance between data generated by NGS and ddPCR.

This application note demonstrates the concordance of these technologies for variant calling.

Download this application note to explore:

  • Variant detection for SNVs, INDELs and CNVs
  • ddPCR as a low cost and easy-to-use solution for AF quantification
  • Orthogonal validation of AFs between methods
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