Genomic reference material (RM) for next-generation sequencing (NGS) has been widely utilized in clinical diagnosis, NGS product development, and patient selection for clinical trials or treatments. To better serve these purposes, RM is expected to have precise allele frequencies (AFs) for all variants contained within.
Several methods have been used to quantify AFs during RM development, including droplet digital PCR (dPCR) and NGS. At LGC Clinical Diagnostics, dPCR has been chosen to quantify and finalize the AFs in our genomic RMs because of its proven sensitivity, ease of use, accuracy, and low cost. Customers report consistent satisfaction with the RMs and associated AFs claimed, but as yet, data directly comparing the two technologies are limited.
This white paper from LGC SeraCare describes a study that analyzed data from two different types of genomic reference materials and demonstrates that next-generation sequencing shows a high level of concordance to variant calls generated with droplet digital PCR as the precise allele frequency-defining method.
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