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New Products: Sophia Genetics' CFTR Test

Oct 01, 2014
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Sophia Genetics has launched a CE-IVD marked, next-generation sequencing-based cystic fibrosis test. According to the company, it has developed a statistical method that enables copy number detection, as well as a realignment algorithm to detect variants in the polyT and polyTG stretches of intron 8 and to distinguish between various combinations of repeat lengths, which enables the test to identify and characterize all types of variants in a single NGS run.

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Clinical Sequencing
Sequencing
Diagnostics
Next-Generation Sequencing
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