P757: The role of deletion and duplication analysis in cystic fibrosis carrier screening

Genetics in Medicine Open 2026 Open access

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Authors: Mona M. Makhamreh, Erica L. Soster, Jennifer Teicher, April Adams, Brandy Firman, Virali Patel, Hui Zhu, Huda B. Al‐Kouatly
DOI: 10.1016/j.gimo.2026.104249
Cited by: 0

Abstract

CFTR full-gene sequencing with deletion/duplication analysis is not currently standard of care for cystic fibrosis (CF) carrier screening. We aimed to quantify the contribution of copy number variants (CNVs) to the overall pathogenic or likely pathogenic (P/LP) variant burden.

Fields of Study & Subjects

Cystic Fibrosis Research Advances Genomics and Rare Diseases Prenatal Screening and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104249–104249
Publication date
1 January 2026
Language
EN