Article
European external quality control study on the competence of laboratories to recognize rare sequence variants resulting in unusual genotyping results.
Clinical chemistry - 1 Apr 2009
Márki-Zay János, Klein Christoph L, Gancberg David, Schimmel Heinz G, Dux László
Abstract excerpt
BACKGROUND: Depending on the method used, rare sequence variants adjacent to the single nucleotide polymorphism (SNP) of interest may cause unusual or erroneous genotyping results. Because such rare variants are known for many genes commonly tested in diagnostic laboratories, we organized a proficiency study to assess their influence on the accuracy of reported laboratory results. METHODS: Four external quality...
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