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Analytical Verification of the CarrierSeq ECS Kit for the Ion GeneStudio S5 System
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"Analytical Verification of the CarrierSeq ECS Kit for the Ion GeneStudio S5 System"

This application note presents an analytical verification of the CarrierSeq ECS Kit, a 420-gene expanded carrier screening research panel that enables the analysis of more than 36,000 ClinVar single-nucleotide variants (SNVs), insertions and deletions (indels), and copy number variations (CNVs) by next-generation sequencing on the Ion GeneStudio S5 System.

Results were obtained from 242 total and 218 unique libraries representing 182 purified genomic DNA (gDNA) samples containing relevant variants.

The study found high sensitivity of the CarrierSeq ECS Kit across all variant types and a high concordance rate for detecting variants in difficult genes.


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