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Article

Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2011

Strom Charles M, Crossley Beryl, Buller-Buerkle Arlene, Jarvis Michael, Quan Franklin, Peng Mei, Muralidharan Kasinathan, Pratt Victoria, Redman Joy B, Sun Weimin

Abstract excerpt

PURPOSE: This study reviews data from our cystic fibrosis testing program to evaluate the performance of population-based carrier screening and compare observed detection rates with predicted results of the American College of Medical Genetics/American College of Obstetricians and Gynecologists recommended panel of 23 mutations. METHODS: We queried our proprietary databases containing approximately 3 million...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 21068670
DOI: 10.1097/GIM.0b013e3181fa24c4

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