Cystic fibrosis screening using the College panel: Platform comparison and lessons learned from the first 20,000 samples

Abstract

Purpose: To determine the accuracy of two commercially available kits for cystic fibrosis (CF) genotyping and determine allele frequencies for the ACMG/ACOG recommended mutations.Methods: A total of 1,040 consecutive analyses using Roche CF Gold Strips and the ABI CF Genotyper were performed. Subsequently we performed analyses of 20,103 samples.Results… (More)
DOI: 10.1097/00125817-200207000-00007

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@article{Strom2002CysticFS, title={Cystic fibrosis screening using the College panel: Platform comparison and lessons learned from the first 20,000 samples}, author={Charles M. Strom and Donghui Stephen Huang and Arlene M Buller and Joy B. Redman and Beryl Crossley and Ben Anderson and Tom Entwistle and Weimin Sun}, journal={Genetics in Medicine}, year={2002}, volume={4}, pages={289-296} }