Expansion of variant panels in newborn screening algorithms to identify cystic fibrosis: A retrospective analysis of 25 years of genotypes and implications on diagnosis.

Abstract excerpt

PURPOSE: We seek to understand the incremental value of applying expanded variant panels or sequencing in population-based screening algorithms for a well-understood condition, such as cystic fibrosis (CF). We compared newborn screening methods to determine at what point do attempts to increase sensitivity of second-tier testing meet diminishing returns. METHODS: Using the genotypes of all Massachusetts...

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