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Making Coverage Count: Screening for CFTR Mutations in Diverse Populations with Effective Variant Panels
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"Making Coverage Count: Screening for CFTR Mutations in Diverse Populations with Effective Variant Panels"

Cystic fibrosis carriers occur most frequently in non-Hispanic white and Ashkenazi Jewish ethnicities, with lower frequencies in other ethnicities. For this reason, knowledge of the mutations responsible for CF have historically focused on ethnicities with higher prevalence.

Recent studies show that typical CF mutation panels recommended by guidelines do not include mutations frequently found in many ethnicities, leading to reduced detection sensitivity in diverse populations.

This white paper discusses how the expanded understanding of CF and its underlying genetics is the key to effective testing for all individuals regardless of ethnic background.


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