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Quality Over Quantity: Comparison of Pathogenic CFTR Variants Across 10 Targeted Kit Panels Reveals Gaps and Opportunities for More Comprehensive Cystic Fibrosis Carrier Screening
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"Quality Over Quantity: Comparison of Pathogenic CFTR Variants Across 10 Targeted Kit Panels Reveals Gaps and Opportunities for More Comprehensive Cystic Fibrosis Carrier Screening"

Databases such as CFTR2 and large-scale gene sequencing studies have assessed cystic fibrosis genetics, and multiple commercial kits currently target a growing number of mutations. However, the pan-ethnic frequency of these variants has not been thoroughly reviewed across a diverse worldwide population.

This video from Asuragen describes an analysis of the global frequency of likely CFTR pathogenic variants, presents a simulated CF carrier screen leveraging allele frequencies across multiple ethnicities, compares the calculated detection rate of 10 CFTR kit panels, and shows how variant quality trumps quantity in identifying CF carriers and at-risk couples.


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