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Making Coverage Count: Effective Screening for CFTR Variants in Diverse Populations

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"Making Coverage Count: Effective Screening for CFTR Variants in Diverse Populations"

Many CFTR panels have been designed using variant information from disease databases that are heavily skewed toward individuals with European ancestry.

Recent studies have shown that many CFTR carriers may be missed in ethnically diverse populations**, including the US demographic. To address these coverage gaps, Asuragen scientists consulted recent, large-scale population studies in the development of the AmplideX PCR/CE CFTR Kit* to ensure key CFTR variants could be detected across ethnic groups. Read the white paper “Making Coverage Count” to learn more about the importance of equitable CFTR coverage in diverse populations.

 

*For Research Use Only. Not for use in diagnostic procedures.

**Based on pathogenic alleles in the U.S. demographic from Beauchamp KA, et al. Genet Med. 2019.


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