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Article

Sequencing as a first-line methodology for cystic fibrosis carrier screening

29 Apr 2019

Abstract excerpt

PURPOSE: Medical society guidelines recommend offering genotyping-based cystic fibrosis (CF) carrier screening to pregnant women or women considering pregnancy. We assessed the performance of sequencing-based CF screening relative to genotyping, in terms of analytical validity, clinical validity, clinical impact, and clinical utility. METHODS: Analytical validity was assessed using orthogonal confirmation and...

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PMID: 31036917
DOI: 10.1038/s41436-019-0525-y

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