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Article

Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries.

Journal of medical genetics - 26 Feb 2025

Lee Eric, Orton Kaylee

Abstract excerpt

BACKGROUND: Targeted cystic fibrosis (CF) carrier screening panels may lack sensitivity in non-European ancestry groups. This study aims to evaluate the sensitivity of various panels in Australian CF carriers identified through sequencing. METHODS: The following panels were evaluated in 869 CF carriers: Asuragen, Elucigene, Devyser, American College of Medical Genetics and Genomics and Victorian Clinical Genetics...

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Identifiers

PMID: 39740802
DOI: 10.1136/jmg-2024-110365

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CFTR

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