How is the diploid cell spike-in distinguished from the cells in my test sample?

  • Updated

Bulk NGS data is required to identify germline SNVs that can be used to distinguish the diploid cells from the test sample cells. We recommend performing a bulk NGS run with the genome-wide CNV panel to obtain these data. The SNV data is to be uploaded in the “Spike-in Variants File”, described here.

 

Please note that if either the GM12878, GM24385, or GM24149 cell lines are used as a reference, then Mission Bio already has germline SNV data and no bulk analysis is necessary.

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