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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Strom Charles M, Huang Donghui, Buller Arlene, Redman Joy, Crossley Beryl, Anderson Ben, Entwistle Tom, Sun Weimin

Abstract excerpt

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: Both kits accurately determined CF genotypes. The I148T...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12172395
DOI: 10.1097/00125817-200207000-00007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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