The Tapestri platform can infer copy number variation (CNV) in a diploid background using amplicon read depth and variant allele frequency information. These calculations rely on a subpopulation of genetically distinct, fully diploid cells for normalization purposes. If there is no naturally occurring population of diploid cells, customers may spike in 5% of a diploid cell population in each Tapestri run.
A diploid, XX sex chromosome sample is required as a control for use with the gwCNV panel. The control cells should be spiked in as 5% of the final cell number loaded onto the Tapestri. If performing antibody staining, the control should be mixed with the sample prior to staining.
We recommend using the GM12878 cell line. Alternatively, healthy donor PBMC with XX sex chromosomes may be used, although uncharacterized donor cells could potentially have undiscovered CNV.