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What is the difference between the variants on the CoA and those in the supplementary batch-specific NGS data?
The allele frequencies of the verified variants reported on the CoA were measured by ddPCR. To pass our QC, the allele frequencies of these verified variants must be within certain parameters, which are also reported on the CoA. Since the reference standards are derived from cell lines, many variants are present in addition to those listed on the CoA that we do not QC for.
We provide NGS data for selected reference standards. This data can be used to confirm the presence of an endogenous variant(s) in the reference standard. However, we cannot verify the absence of a variant that was not detected – such a variant could be either a true negative or it may have remained undetected due to the assay design or analysis method used.