SNP Validation

The process of sequencing and analysis goes through a series of steps with much human involvement, and therefore is prone to error. In order to verify that a patient indeed does have particular variant, we can go through a step of SNP Validation for a batch of patients. We've created a tool that can be invoked through our web portal to determine the smallest combination of SNPs required to uniquely identify a patient within a batch for a predefined SNP panel. This process requires that the BAM file be available and can take a while, depending on the size of the batch.

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